The Human Genome Structural Variation Consortium (HGSVC), funded by NHGRI, have built on their earlier work exploring multiple technologies for structural variation discovery.

In HGSVC2, their work applies multiple technologies to samples across the 1000 Genomes Project populations, producing haplotype resolved assemblies and identifying structural variation. Detected variation has been genotyped across the 3,202 1000 Genomes Project samples for which high-coverage Illumina data is available. The Illumina data used in this work is the 30x data generated by NYGC.

Data generated by the project is presented below. All working files and current genotype files (VCFs) are available on our FTP site.

Some key data sets include:

This work is described in the publication by Ebert et al., 2021 and Mark J P Chaisson et al., 2019.