Resources for Haplotype-resolved diverse human genomes and integrated analysis of structural variation, Ebert et al., Science, 2021

The International Genome Sample Resource manages data distribution for the HGSVC. Data for Ebert, P. et al. Science, 2021, are available through the link below.

The data distribution includes raw sequence data:

  • PacBio unaligned bam files.

  • Strand-Seq Illumina reads.

  • Bionano genomics maps.

Variant calls:

  • Merged VCF of variants discovered from haplotype-resolved assemblies (full spectrum).

https://www.internationalgenome.org/data-portal/data-collection/hgsvc2

Haplotype resolved assemblies of Assemblies of PacBio Continuous Long Read genomes are available at:

http://ftp.1000genomes.ebi.ac.uk/vol1/ftp/data_collections/HGSVC2/release/v1.0/assemblies/20200612_HHU_assembly-results_CLR_v12/assemblies/phased/

http://ftp.1000genomes.ebi.ac.uk/vol1/ftp/data_collections/HGSVC2/release/v1.0/assemblies/20200716_UW_assembly-results_CLR_v12/assemblies/phased/

http://ftp.1000genomes.ebi.ac.uk/vol1/ftp/data_collections/HGSVC2/release/v1.0/assemblies/20200828_JAX_assembly-results_CLR_v12/

http://ftp.1000genomes.ebi.ac.uk/vol1/ftp/data_collections/HGSVC2/release/v1.0/assemblies/20200810_HHU_assembly-results_HG00514_v12/assemblies/phased/

Haplotype resolved assemblies of Assemblies of PacBio HiFi genomes are available at:

http://ftp/data_collections/HGSVC2/release/v1.0/assemblies/20200612_HHU_assembly-results_CLR_v12/assemblies/phased/

http://ftp.1000genomes.ebi.ac.uk/vol1/ftp/data_collections/HGSVC2/release/v1.0/assemblies/20200717_HHU_assembly-results_CCS_v12/

Note these include three children (HG00733, NA19240, and HG00514) not used to produce variant calls in the manuscript.