About file location

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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Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation

Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation

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STRC long-read sequencing for validation purposes in the Chameleolyser study

Sequencing data is available for researchers under controlled access

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
EGAS00001007513 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
EGAF00008209477 fastq.gz 66.3 MB Report
EGAF00008209478 fastq.gz 134.3 MB Report
EGAF00008209479 fastq.gz 53.9 MB Report
EGAF00008209480 fastq.gz 46.1 MB Report
EGAF00008209481 fastq.gz 52.0 MB Report
EGAF00008209482 fastq.gz 7.3 MB Report
EGAF00008209483 fastq.gz 109.7 MB Report
7 Files (469.6 MB)