The Human Genome Structural Variation Consortium (HGSVC) aims to define a high-quality map of structural variation and develop new methods to take advantage of the burgeoning array of genomics assays now available to define genomic structure, including long reads, chromatin confirmation assay, strand sequencing and synthetic read and read cloud technologies.
These assays are being applied to three trios of samples from the 1000 Genomes Project. The Yoruban trio, NA19238, NA19239 and NA19240; the Puerto Rican trio HG00731, HG00732, HG00733 and the Southern Han Chinese trio, HG00512, HG00513, HG00514.
The International Genome Sample Resource (IGSR) is working with the HGSVC to assist with data coordination, analysis and distribution. The data collected by the HGSVC group so far can be found on our FTP site under data_collections/hgsv_sv_discovery/.
The HGSVC is following on work performed previously by the 1000 Genomes Project Structural Variation Analysis Group.
The HGSVC is following on work performed previously by the 1000 Genomes Project Structural Variation Analysis Group and continues to apply cutting edge sequence and mapping technologies to resolve the pattern of normal structural variation in diverse human populations (eg. HGSVC2).