Dataset ID | Technology | Samples |
---|---|---|
EGAD00001004134 | Illumina HiSeq 2500 | 639 |
Dataset Description
The set of pathogenic CPG variants includes strong representation of some of the most challenging types of pathogenic variants, with 339 indels, including 16 complex indels and 24 insertions or deletions with length greater than 5bp, and 74 exon CNVs, including 23 single exon CNVs. There are 502 pathogenic variants in BRCA1 or BRCA2, making this an important first-line validation dataset for laboratories performing NGS testing of BRCA1 and BRCA2.
Who controls access to this dataset
For each dataset that requires controlled access, there is a corresponding Data Access Committee (DAC) who determine access permissions. Access to actual data files is not managed by the EGA. If you need to request access to this data set, please contact:

ICR-GSR
Contact person: Nazneen Rahman
Email: drnazneenrahman100 [at] gmail [dot] com
Access information: http://www.thetgmi.org/gemstar/
More details: EGAC00001000235