esv3888597

Organism: Homo sapiens

Study:estd219 (1000 Genomes Consortium Phase 3 Integrated SV)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:11
Validation:Not tested
Clinical Assertions: No
Region Size:89,303

Publication(s):1000 Genomes Consortium Phase 3 Integrated SV

Links to Other Resources

Overlapping Genes

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 858 SVs from 49 studies. See in: genome view

Remapped(Score: Perfect):32,702,928-32,792,243

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3888597	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	32,702,934 (-6, +7)	32,792,236 (-6, +7)
esv3888597	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	32,721,051 (-6, +7)	32,810,353 (-6, +7)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv25264942	deletion	HG00154	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,446
essv25264943	deletion	HG00361	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,647
essv25264944	deletion	HG01366	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,679
essv25264945	deletion	HG03511	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,980
essv25264946	deletion	NA18520	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,716
essv25264947	deletion	NA19332	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,777
essv25264948	deletion	NA19700	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,963
essv25264949	deletion	NA19923	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,652
essv25264950	deletion	NA20506	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,161
essv25264951	deletion	NA20530	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,153
essv25264952	deletion	NA20533	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,922

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv25264942	Remapped	Perfect	NC_000023.11:g.(32 702928_32702941)_( 32792230_32792243) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	32,702,934 (-6, +7)	32,792,236 (-6, +7)
essv25264943	Remapped	Perfect	NC_000023.11:g.(32 702928_32702941)_( 32792230_32792243) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	32,702,934 (-6, +7)	32,792,236 (-6, +7)
essv25264944	Remapped	Perfect	NC_000023.11:g.(32 702928_32702941)_( 32792230_32792243) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	32,702,934 (-6, +7)	32,792,236 (-6, +7)
essv25264945	Remapped	Perfect	NC_000023.11:g.(32 702928_32702941)_( 32792230_32792243) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	32,702,934 (-6, +7)	32,792,236 (-6, +7)
essv25264946	Remapped	Perfect	NC_000023.11:g.(32 702928_32702941)_( 32792230_32792243) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	32,702,934 (-6, +7)	32,792,236 (-6, +7)
essv25264947	Remapped	Perfect	NC_000023.11:g.(32 702928_32702941)_( 32792230_32792243) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	32,702,934 (-6, +7)	32,792,236 (-6, +7)
essv25264948	Remapped	Perfect	NC_000023.11:g.(32 702928_32702941)_( 32792230_32792243) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	32,702,934 (-6, +7)	32,792,236 (-6, +7)
essv25264949	Remapped	Perfect	NC_000023.11:g.(32 702928_32702941)_( 32792230_32792243) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	32,702,934 (-6, +7)	32,792,236 (-6, +7)
essv25264950	Remapped	Perfect	NC_000023.11:g.(32 702928_32702941)_( 32792230_32792243) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	32,702,934 (-6, +7)	32,792,236 (-6, +7)
essv25264951	Remapped	Perfect	NC_000023.11:g.(32 702928_32702941)_( 32792230_32792243) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	32,702,934 (-6, +7)	32,792,236 (-6, +7)
essv25264952	Remapped	Perfect	NC_000023.11:g.(32 702928_32702941)_( 32792230_32792243) del	GRCh38.p12	First Pass	NC_000023.11	ChrX	32,702,934 (-6, +7)	32,792,236 (-6, +7)
essv25264942	Submitted genomic		NC_000023.10:g.(32 721045_32721058)_( 32810347_32810360) del	GRCh37 (hg19)		NC_000023.10	ChrX	32,721,051 (-6, +7)	32,810,353 (-6, +7)
essv25264943	Submitted genomic		NC_000023.10:g.(32 721045_32721058)_( 32810347_32810360) del	GRCh37 (hg19)		NC_000023.10	ChrX	32,721,051 (-6, +7)	32,810,353 (-6, +7)
essv25264944	Submitted genomic		NC_000023.10:g.(32 721045_32721058)_( 32810347_32810360) del	GRCh37 (hg19)		NC_000023.10	ChrX	32,721,051 (-6, +7)	32,810,353 (-6, +7)
essv25264945	Submitted genomic		NC_000023.10:g.(32 721045_32721058)_( 32810347_32810360) del	GRCh37 (hg19)		NC_000023.10	ChrX	32,721,051 (-6, +7)	32,810,353 (-6, +7)
essv25264946	Submitted genomic		NC_000023.10:g.(32 721045_32721058)_( 32810347_32810360) del	GRCh37 (hg19)		NC_000023.10	ChrX	32,721,051 (-6, +7)	32,810,353 (-6, +7)
essv25264947	Submitted genomic		NC_000023.10:g.(32 721045_32721058)_( 32810347_32810360) del	GRCh37 (hg19)		NC_000023.10	ChrX	32,721,051 (-6, +7)	32,810,353 (-6, +7)
essv25264948	Submitted genomic		NC_000023.10:g.(32 721045_32721058)_( 32810347_32810360) del	GRCh37 (hg19)		NC_000023.10	ChrX	32,721,051 (-6, +7)	32,810,353 (-6, +7)
essv25264949	Submitted genomic		NC_000023.10:g.(32 721045_32721058)_( 32810347_32810360) del	GRCh37 (hg19)		NC_000023.10	ChrX	32,721,051 (-6, +7)	32,810,353 (-6, +7)
essv25264950	Submitted genomic		NC_000023.10:g.(32 721045_32721058)_( 32810347_32810360) del	GRCh37 (hg19)		NC_000023.10	ChrX	32,721,051 (-6, +7)	32,810,353 (-6, +7)
essv25264951	Submitted genomic		NC_000023.10:g.(32 721045_32721058)_( 32810347_32810360) del	GRCh37 (hg19)		NC_000023.10	ChrX	32,721,051 (-6, +7)	32,810,353 (-6, +7)
essv25264952	Submitted genomic		NC_000023.10:g.(32 721045_32721058)_( 32810347_32810360) del	GRCh37 (hg19)		NC_000023.10	ChrX	32,721,051 (-6, +7)	32,810,353 (-6, +7)

dbVar

Database of genomic structural variation

esv3888597

Links to Other Resources

Genome View

Variant Region Placement Information

Variant Call Information

Variant Call Placement Information

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype and/or allele frequency data can be found on dbVar's FTP site.