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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Long-read HiFi and ONT sequencing of 10 trios with recurrent 15q13.3 CNVs

This dataset contains long-read whole-genome sequencing data from 30 individuals comprising 10 parent-offspring trios, in which each index case carries a recurrent CNV at the 15q13.3 locus (BP4-BP5 deletion or duplication, or a smaller CHRNA7 deletion or duplication). PacBio HiFi data were generated for all 30 individuals on a Revio instrument and are provided as unaligned BAM files. Oxford Nanopore ultra-long data were additionally generated for three individuals on a PromethION and are provided as FASTQ files. All DNA was extracted from blood; the data were produced to resolve CNV breakpoints, parental haplotypes and the structural background of the locus.

Request Access

Data access request evaluated per case.

Data access will be assessed per request made to the Data Access Committee (DAC). Note that access to this whole-genome long-read sequencing dataset can only be granted to research institutions for academic purposes. Please submit your data access request to the DAC, with a clear description of the purpose of your request.

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
EGAS50000002023 Whole Genome Sequencing

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
EGAF50000939662 bam 45.8 GB
EGAF50000939663 bam 50.1 GB
EGAF50000939664 bam 53.2 GB
EGAF50000939665 bam 51.1 GB
EGAF50000939666 bam 52.7 GB
EGAF50000939667 bam 57.9 GB
EGAF50000939668 bam 43.2 GB
EGAF50000939669 bam 61.8 GB
EGAF50000939670 bam 54.5 GB
EGAF50000939671 bam 60.4 GB
EGAF50000939672 bam 46.8 GB
EGAF50000939673 bam 50.6 GB
EGAF50000939674 bam 58.1 GB
EGAF50000939675 bam 40.5 GB
EGAF50000939676 bam 48.4 GB
EGAF50000939677 bam 55.8 GB
EGAF50000939678 bam 58.4 GB
EGAF50000939679 bam 55.9 GB
EGAF50000939680 bam 51.3 GB
EGAF50000939681 bam 58.6 GB
EGAF50000939682 fastq.gz 70.1 GB
EGAF50000939683 bam 57.9 GB
EGAF50000939684 bam 48.7 GB
EGAF50000939685 fastq.gz 72.6 GB
EGAF50000939686 bam 51.6 GB
EGAF50000939687 fastq.gz 19.5 GB
EGAF50000939688 bam 52.0 GB
EGAF50000939689 bam 46.9 GB
EGAF50000939690 bam 83.7 GB
EGAF50000939691 bam 48.4 GB
EGAF50000939692 bam 49.6 GB
EGAF50000939693 bam 36.0 GB
EGAF50000939694 bam 65.0 GB
33 Files (1.8 TB)