The 1000 Genomes Project created a catalogue of common human genetic variation, using openly consented samples from people who declared themselves to be healthy. The reference data resources generated by the project remain heavily used by the biomedical science community.
The International Genome Sample Resource (IGSR) maintains and shares the human genetic variation resources built by the 1000 Genomes Project. We also update the resources to the current reference assembly, add new data sets generated from the 1000 Genomes Project samples and add data from projects working with other openly consented samples.
Complex genetic variation in nearly complete human genomes by Logsdon, G.A., et al describes an extensive catalog of variation from the near complete assemblies of 65 human genomes from diverse 1000 Genomes Project samples. These high quality assemblies enable a more comprehensive insight into all variant types, including those within complex regions.
Data is available via the HGSVC3 collection.
Structural variation in 1,019 diverse humans based on long-read sequencing by Schloissnig, S et al describes the characterisation of structural variants in 1019 samples from 26 different the 1000 Genomes Project populations. This study used intermediate-coverage long read sequencing and a novel integration of linear and graph genome-based analyses.
Data is available via the 1KG_ONT_VIENNA collection.