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As the EGA is co-managed by the EMBL-EBI and CRG, files could be located in the UK and/or Spain, as indicated by their respective flags.

Alternatively, files could be located in one of the international Federated EGA nodes, as indicated next to the node's flag.
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ICR96 exon CNV validation series

A resource for assessment of exon CNV calling methods in targeted NGS data, we here present the ICR96 exon CNV validation series. The dataset includes high-quality sequencing data from a targeted NGS assay (the TruSight Cancer Panel) together with Multiplex Ligation-dependent Probe Amplification (MLPA) results for 96 independent samples. 66 samples contain at least one validated exon CNV and 30 samples have validated negative results for exon CNVs in 26 genes. The dataset includes 46 exon CNVs in BRCA1, BRCA2, TP53, MLH1, MSH2, MSH6, PMS2, EPCAM and PTEN, giving excellent representation of the cancer predisposition genes most frequently tested in clinical practice. Moreover, the validated exon CNVs include 25 single exon CNVs the most difficult exon CNV to detect.

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Accessing ICR-GSR data archived in EGA

ICR - Genetic Susceptibility Research (ICR-GSR)Data Access CommitteeAccession number: EGAC00001000235Details of the ICR-GSR Data Access Committee are available for each of the datasets accessible via www.icr.ac.uk/genetic-resourcesAlternatively, please email rahmanlab@icr.ac.uk, giving the above Accession number in the subject line, to request an Application Form for access. This should be completed and and returned to rahmanlab@icr.ac.uk. Applications will only be accepted electronically. Any queries regarding access procedures or completion of the forms should be sent to this email address. Once access has been approved, an agreement will need to be completed. A signed hard copy of the agreement should e-mailed, faxed or posted to: Professor Nazneen Rahman The Institute of Cancer Research, London Division of Genetics & Epidemiology 15 Cotswold Road Sutton SM2 5NG UNITED KINGDOMEmail: rahmanlab@icr.ac.uk Fax: =44(0)20 8722 4359

Studies are experimental investigations of a particular phenomenon, e.g., case-control studies on a particular trait or cancer research projects reporting matching cancer normal genomes from patients.

Study ID Study Title Study Type
EGAS00001002428 Other

This table displays only public information pertaining to the files in the dataset. If you wish to access this dataset, please submit a request. If you already have access to these data files, please consult the download documentation.

ID File Type Size Quality Report
Located in
i
EGAF00001592737 fastq.gz 228.9 MB Report
EGAF00001592738 fastq.gz 233.7 MB Report
EGAF00001592739 fastq.gz 218.9 MB Report
EGAF00001592740 fastq.gz 225.4 MB Report
EGAF00001592741 fastq.gz 156.0 MB Report
EGAF00001592742 fastq.gz 159.2 MB Report
EGAF00001592743 fastq.gz 240.8 MB Report
EGAF00001592744 fastq.gz 250.7 MB Report
EGAF00001592745 fastq.gz 233.9 MB Report
EGAF00001592746 fastq.gz 242.1 MB Report
EGAF00001592747 fastq.gz 360.0 MB Report
EGAF00001592748 fastq.gz 373.5 MB Report
EGAF00001592749 fastq.gz 190.8 MB Report
EGAF00001592750 fastq.gz 196.2 MB Report
EGAF00001592751 fastq.gz 303.0 MB Report
EGAF00001592752 fastq.gz 311.0 MB Report
EGAF00001592753 fastq.gz 258.3 MB Report
EGAF00001592754 fastq.gz 263.4 MB Report
EGAF00001592755 fastq.gz 310.6 MB Report
EGAF00001592756 fastq.gz 320.0 MB Report
EGAF00001592757 fastq.gz 271.0 MB Report
EGAF00001592758 fastq.gz 278.5 MB Report
EGAF00001592759 fastq.gz 235.3 MB Report
EGAF00001592760 fastq.gz 244.4 MB Report
EGAF00001592761 fastq.gz 370.8 MB Report
EGAF00001592762 fastq.gz 385.5 MB Report
EGAF00001592763 fastq.gz 361.9 MB Report
EGAF00001592764 fastq.gz 374.6 MB Report
EGAF00001592765 fastq.gz 331.4 MB Report
EGAF00001592766 fastq.gz 344.3 MB Report
EGAF00001592767 fastq.gz 383.0 MB Report
EGAF00001592768 fastq.gz 395.2 MB Report
EGAF00001592769 fastq.gz 244.3 MB Report
EGAF00001592770 fastq.gz 254.5 MB Report
EGAF00001592771 fastq.gz 300.0 MB Report
EGAF00001592772 fastq.gz 312.2 MB Report
EGAF00001592773 fastq.gz 270.0 MB Report
EGAF00001592774 fastq.gz 279.6 MB Report
EGAF00001592775 fastq.gz 311.9 MB Report
EGAF00001592776 fastq.gz 327.7 MB Report
EGAF00001592777 fastq.gz 320.9 MB Report
EGAF00001592778 fastq.gz 334.0 MB Report
EGAF00001592779 fastq.gz 350.1 MB Report
EGAF00001592780 fastq.gz 365.5 MB Report
EGAF00001592781 fastq.gz 350.6 MB Report
EGAF00001592782 fastq.gz 367.1 MB Report
EGAF00001592783 fastq.gz 354.5 MB Report
EGAF00001592784 fastq.gz 369.9 MB Report
EGAF00001592785 fastq.gz 335.1 MB Report
EGAF00001592786 fastq.gz 335.1 MB Report
EGAF00001592787 fastq.gz 405.6 MB Report
EGAF00001592788 fastq.gz 418.1 MB Report
EGAF00001592789 fastq.gz 364.6 MB Report
EGAF00001592790 fastq.gz 374.6 MB Report
EGAF00001592791 fastq.gz 176.3 MB Report
EGAF00001592792 fastq.gz 182.9 MB Report
EGAF00001592793 fastq.gz 353.7 MB Report
EGAF00001592794 fastq.gz 366.3 MB Report
EGAF00001592795 fastq.gz 458.8 MB Report
EGAF00001592796 fastq.gz 474.4 MB Report
EGAF00001592797 fastq.gz 387.8 MB Report
EGAF00001592798 fastq.gz 420.8 MB Report
EGAF00001592799 fastq.gz 457.1 MB Report
EGAF00001592800 fastq.gz 470.9 MB Report
EGAF00001592801 fastq.gz 321.0 MB Report
EGAF00001592802 fastq.gz 325.3 MB Report
EGAF00001592803 fastq.gz 381.0 MB Report
EGAF00001592804 fastq.gz 392.9 MB Report
EGAF00001592805 fastq.gz 390.7 MB Report
EGAF00001592806 fastq.gz 401.4 MB Report
EGAF00001592807 fastq.gz 400.0 MB Report
EGAF00001592808 fastq.gz 416.8 MB Report
EGAF00001592809 fastq.gz 444.4 MB Report
EGAF00001592810 fastq.gz 459.8 MB Report
EGAF00001592811 fastq.gz 641.4 MB Report
EGAF00001592812 fastq.gz 666.8 MB Report
EGAF00001592813 fastq.gz 486.1 MB Report
EGAF00001592814 fastq.gz 504.7 MB Report
EGAF00001592815 fastq.gz 474.0 MB Report
EGAF00001592816 fastq.gz 488.4 MB Report
EGAF00001592817 fastq.gz 305.4 MB Report
EGAF00001592818 fastq.gz 309.6 MB Report
EGAF00001592819 fastq.gz 376.5 MB Report
EGAF00001592820 fastq.gz 387.0 MB Report
EGAF00001592821 fastq.gz 373.2 MB Report
EGAF00001592822 fastq.gz 384.0 MB Report
EGAF00001592823 fastq.gz 417.8 MB Report
EGAF00001592824 fastq.gz 438.9 MB Report
EGAF00001592825 fastq.gz 335.8 MB Report
EGAF00001592826 fastq.gz 345.3 MB Report
EGAF00001592827 fastq.gz 400.2 MB Report
EGAF00001592828 fastq.gz 413.8 MB Report
EGAF00001592829 fastq.gz 183.4 MB Report
EGAF00001592830 fastq.gz 188.6 MB Report
EGAF00001592831 fastq.gz 396.4 MB Report
EGAF00001592832 fastq.gz 409.6 MB Report
EGAF00001592833 fastq.gz 435.2 MB Report
EGAF00001592834 fastq.gz 450.9 MB Report
EGAF00001592835 fastq.gz 376.8 MB Report
EGAF00001592836 fastq.gz 391.4 MB Report
EGAF00001592837 fastq.gz 356.3 MB Report
EGAF00001592838 fastq.gz 371.2 MB Report
EGAF00001592839 fastq.gz 334.0 MB Report
EGAF00001592840 fastq.gz 353.1 MB Report
EGAF00001592841 fastq.gz 336.6 MB Report
EGAF00001592842 fastq.gz 349.0 MB Report
EGAF00001592843 fastq.gz 397.3 MB Report
EGAF00001592844 fastq.gz 413.6 MB Report
EGAF00001592845 fastq.gz 346.4 MB Report
EGAF00001592846 fastq.gz 359.6 MB Report
EGAF00001592847 fastq.gz 376.7 MB Report
EGAF00001592848 fastq.gz 389.5 MB Report
EGAF00001592849 fastq.gz 358.7 MB Report
EGAF00001592850 fastq.gz 373.1 MB Report
EGAF00001592851 fastq.gz 319.9 MB Report
EGAF00001592852 fastq.gz 332.3 MB Report
EGAF00001592853 fastq.gz 288.0 MB Report
EGAF00001592854 fastq.gz 299.0 MB Report
EGAF00001592855 fastq.gz 287.9 MB Report
EGAF00001592856 fastq.gz 304.1 MB Report
EGAF00001592857 fastq.gz 281.3 MB Report
EGAF00001592858 fastq.gz 292.6 MB Report
EGAF00001592859 fastq.gz 321.9 MB Report
EGAF00001592860 fastq.gz 335.7 MB Report
EGAF00001592861 fastq.gz 300.4 MB Report
EGAF00001592862 fastq.gz 314.0 MB Report
EGAF00001592863 fastq.gz 389.7 MB Report
EGAF00001592864 fastq.gz 405.9 MB Report
EGAF00001592865 fastq.gz 298.6 MB Report
EGAF00001592866 fastq.gz 312.9 MB Report
EGAF00001592867 fastq.gz 264.3 MB Report
EGAF00001592868 fastq.gz 275.9 MB Report
EGAF00001592869 fastq.gz 248.9 MB Report
EGAF00001592870 fastq.gz 258.2 MB Report
EGAF00001592871 fastq.gz 279.5 MB Report
EGAF00001592872 fastq.gz 297.2 MB Report
EGAF00001592873 fastq.gz 287.6 MB Report
EGAF00001592874 fastq.gz 298.9 MB Report
EGAF00001592875 fastq.gz 307.7 MB Report
EGAF00001592876 fastq.gz 322.4 MB Report
EGAF00001592877 fastq.gz 315.4 MB Report
EGAF00001592878 fastq.gz 330.6 MB Report
EGAF00001592879 fastq.gz 316.6 MB Report
EGAF00001592880 fastq.gz 329.1 MB Report
EGAF00001592881 fastq.gz 275.9 MB Report
EGAF00001592882 fastq.gz 281.1 MB Report
EGAF00001592883 fastq.gz 223.6 MB Report
EGAF00001592884 fastq.gz 228.5 MB Report
EGAF00001592885 fastq.gz 273.0 MB Report
EGAF00001592886 fastq.gz 281.8 MB Report
EGAF00001592887 fastq.gz 303.1 MB Report
EGAF00001592888 fastq.gz 321.9 MB Report
EGAF00001592889 fastq.gz 267.6 MB Report
EGAF00001592890 fastq.gz 278.3 MB Report
EGAF00001592891 fastq.gz 365.3 MB Report
EGAF00001592892 fastq.gz 378.6 MB Report
EGAF00001592893 fastq.gz 297.5 MB Report
EGAF00001592894 fastq.gz 317.5 MB Report
EGAF00001592895 fastq.gz 409.9 MB Report
EGAF00001592896 fastq.gz 424.5 MB Report
EGAF00001592897 fastq.gz 289.9 MB Report
EGAF00001592898 fastq.gz 298.7 MB Report
EGAF00001592899 fastq.gz 284.0 MB Report
EGAF00001592900 fastq.gz 292.9 MB Report
EGAF00001592901 fastq.gz 267.2 MB Report
EGAF00001592902 fastq.gz 274.5 MB Report
EGAF00001592903 fastq.gz 266.0 MB Report
EGAF00001592904 fastq.gz 279.3 MB Report
EGAF00001592905 fastq.gz 301.3 MB Report
EGAF00001592906 fastq.gz 312.5 MB Report
EGAF00001592907 fastq.gz 353.6 MB Report
EGAF00001592908 fastq.gz 366.0 MB Report
EGAF00001592909 fastq.gz 286.6 MB Report
EGAF00001592910 fastq.gz 294.1 MB Report
EGAF00001592911 fastq.gz 374.7 MB Report
EGAF00001592912 fastq.gz 388.3 MB Report
EGAF00001592913 fastq.gz 279.5 MB Report
EGAF00001592914 fastq.gz 289.3 MB Report
EGAF00001592915 fastq.gz 287.0 MB Report
EGAF00001592916 fastq.gz 297.2 MB Report
EGAF00001592917 fastq.gz 231.3 MB Report
EGAF00001592918 fastq.gz 239.0 MB Report
EGAF00001592919 fastq.gz 236.4 MB Report
EGAF00001592920 fastq.gz 249.0 MB Report
EGAF00001592921 fastq.gz 258.6 MB Report
EGAF00001592922 fastq.gz 268.5 MB Report
EGAF00001592923 fastq.gz 267.7 MB Report
EGAF00001592924 fastq.gz 277.2 MB Report
EGAF00001592925 fastq.gz 269.6 MB Report
EGAF00001592926 fastq.gz 280.5 MB Report
EGAF00001592927 fastq.gz 296.7 MB Report
EGAF00001592928 fastq.gz 308.6 MB Report
192 Files (63.2 GB)