esv3853887

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:19
Validation:Not tested
Clinical Assertions: No
Region Size:13,313

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: 187 SVs from 38 studies. See in: genome view

Remapped(Score: Perfect):55,465,779-55,480,091

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3853887	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	55,466,279 (-500, +0)	55,479,591 (-0, +500)
esv3853887	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000008.10	Chr8	56,378,839 (-500, +0)	56,392,151 (-0, +500)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv21173667	deletion	HG01048	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,536
essv21173668	deletion	HG02322	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,722
essv21173669	deletion	HG02756	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,082
essv21173670	deletion	HG02888	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,709
essv21173671	deletion	HG03046	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,832
essv21173672	deletion	HG03291	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,599
essv21173673	deletion	HG03499	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,259
essv21173674	deletion	HG03567	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,389
essv21173675	deletion	NA18489	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,852
essv21173676	deletion	NA18504	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,958
essv21173677	deletion	NA18934	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Homozygous	3,483
essv21173678	deletion	NA19030	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,929
essv21173679	deletion	NA19037	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,920
essv21173680	deletion	NA19189	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,039
essv21173681	deletion	NA19319	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,273
essv21173682	deletion	NA19378	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,801
essv21173683	deletion	NA19471	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,678
essv21173684	deletion	NA19472	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,782
essv21173685	deletion	NA19625	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,753

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv21173667	Remapped	Perfect	NC_000008.11:g.(55 465779_55466279)_( 55479591_55480091) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	55,466,279 (-500, +0)	55,479,591 (-0, +500)
essv21173668	Remapped	Perfect	NC_000008.11:g.(55 465779_55466279)_( 55479591_55480091) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	55,466,279 (-500, +0)	55,479,591 (-0, +500)
essv21173669	Remapped	Perfect	NC_000008.11:g.(55 465779_55466279)_( 55479591_55480091) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	55,466,279 (-500, +0)	55,479,591 (-0, +500)
essv21173670	Remapped	Perfect	NC_000008.11:g.(55 465779_55466279)_( 55479591_55480091) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	55,466,279 (-500, +0)	55,479,591 (-0, +500)
essv21173671	Remapped	Perfect	NC_000008.11:g.(55 465779_55466279)_( 55479591_55480091) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	55,466,279 (-500, +0)	55,479,591 (-0, +500)
essv21173672	Remapped	Perfect	NC_000008.11:g.(55 465779_55466279)_( 55479591_55480091) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	55,466,279 (-500, +0)	55,479,591 (-0, +500)
essv21173673	Remapped	Perfect	NC_000008.11:g.(55 465779_55466279)_( 55479591_55480091) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	55,466,279 (-500, +0)	55,479,591 (-0, +500)
essv21173674	Remapped	Perfect	NC_000008.11:g.(55 465779_55466279)_( 55479591_55480091) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	55,466,279 (-500, +0)	55,479,591 (-0, +500)
essv21173675	Remapped	Perfect	NC_000008.11:g.(55 465779_55466279)_( 55479591_55480091) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	55,466,279 (-500, +0)	55,479,591 (-0, +500)
essv21173676	Remapped	Perfect	NC_000008.11:g.(55 465779_55466279)_( 55479591_55480091) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	55,466,279 (-500, +0)	55,479,591 (-0, +500)
essv21173677	Remapped	Perfect	NC_000008.11:g.(55 465779_55466279)_( 55479591_55480091) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	55,466,279 (-500, +0)	55,479,591 (-0, +500)
essv21173678	Remapped	Perfect	NC_000008.11:g.(55 465779_55466279)_( 55479591_55480091) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	55,466,279 (-500, +0)	55,479,591 (-0, +500)
essv21173679	Remapped	Perfect	NC_000008.11:g.(55 465779_55466279)_( 55479591_55480091) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	55,466,279 (-500, +0)	55,479,591 (-0, +500)
essv21173680	Remapped	Perfect	NC_000008.11:g.(55 465779_55466279)_( 55479591_55480091) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	55,466,279 (-500, +0)	55,479,591 (-0, +500)
essv21173681	Remapped	Perfect	NC_000008.11:g.(55 465779_55466279)_( 55479591_55480091) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	55,466,279 (-500, +0)	55,479,591 (-0, +500)
essv21173682	Remapped	Perfect	NC_000008.11:g.(55 465779_55466279)_( 55479591_55480091) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	55,466,279 (-500, +0)	55,479,591 (-0, +500)
essv21173683	Remapped	Perfect	NC_000008.11:g.(55 465779_55466279)_( 55479591_55480091) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	55,466,279 (-500, +0)	55,479,591 (-0, +500)
essv21173684	Remapped	Perfect	NC_000008.11:g.(55 465779_55466279)_( 55479591_55480091) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	55,466,279 (-500, +0)	55,479,591 (-0, +500)
essv21173685	Remapped	Perfect	NC_000008.11:g.(55 465779_55466279)_( 55479591_55480091) del	GRCh38.p12	First Pass	NC_000008.11	Chr8	55,466,279 (-500, +0)	55,479,591 (-0, +500)
essv21173667	Submitted genomic		NC_000008.10:g.(56 378339_56378839)_( 56392151_56392651) del	GRCh37 (hg19)		NC_000008.10	Chr8	56,378,839 (-500, +0)	56,392,151 (-0, +500)
essv21173668	Submitted genomic		NC_000008.10:g.(56 378339_56378839)_( 56392151_56392651) del	GRCh37 (hg19)		NC_000008.10	Chr8	56,378,839 (-500, +0)	56,392,151 (-0, +500)
essv21173669	Submitted genomic		NC_000008.10:g.(56 378339_56378839)_( 56392151_56392651) del	GRCh37 (hg19)		NC_000008.10	Chr8	56,378,839 (-500, +0)	56,392,151 (-0, +500)
essv21173670	Submitted genomic		NC_000008.10:g.(56 378339_56378839)_( 56392151_56392651) del	GRCh37 (hg19)		NC_000008.10	Chr8	56,378,839 (-500, +0)	56,392,151 (-0, +500)
essv21173671	Submitted genomic		NC_000008.10:g.(56 378339_56378839)_( 56392151_56392651) del	GRCh37 (hg19)		NC_000008.10	Chr8	56,378,839 (-500, +0)	56,392,151 (-0, +500)
essv21173672	Submitted genomic		NC_000008.10:g.(56 378339_56378839)_( 56392151_56392651) del	GRCh37 (hg19)		NC_000008.10	Chr8	56,378,839 (-500, +0)	56,392,151 (-0, +500)
essv21173673	Submitted genomic		NC_000008.10:g.(56 378339_56378839)_( 56392151_56392651) del	GRCh37 (hg19)		NC_000008.10	Chr8	56,378,839 (-500, +0)	56,392,151 (-0, +500)
essv21173674	Submitted genomic		NC_000008.10:g.(56 378339_56378839)_( 56392151_56392651) del	GRCh37 (hg19)		NC_000008.10	Chr8	56,378,839 (-500, +0)	56,392,151 (-0, +500)
essv21173675	Submitted genomic		NC_000008.10:g.(56 378339_56378839)_( 56392151_56392651) del	GRCh37 (hg19)		NC_000008.10	Chr8	56,378,839 (-500, +0)	56,392,151 (-0, +500)
essv21173676	Submitted genomic		NC_000008.10:g.(56 378339_56378839)_( 56392151_56392651) del	GRCh37 (hg19)		NC_000008.10	Chr8	56,378,839 (-500, +0)	56,392,151 (-0, +500)
essv21173677	Submitted genomic		NC_000008.10:g.(56 378339_56378839)_( 56392151_56392651) del	GRCh37 (hg19)		NC_000008.10	Chr8	56,378,839 (-500, +0)	56,392,151 (-0, +500)
essv21173678	Submitted genomic		NC_000008.10:g.(56 378339_56378839)_( 56392151_56392651) del	GRCh37 (hg19)		NC_000008.10	Chr8	56,378,839 (-500, +0)	56,392,151 (-0, +500)
essv21173679	Submitted genomic		NC_000008.10:g.(56 378339_56378839)_( 56392151_56392651) del	GRCh37 (hg19)		NC_000008.10	Chr8	56,378,839 (-500, +0)	56,392,151 (-0, +500)
essv21173680	Submitted genomic		NC_000008.10:g.(56 378339_56378839)_( 56392151_56392651) del	GRCh37 (hg19)		NC_000008.10	Chr8	56,378,839 (-500, +0)	56,392,151 (-0, +500)
essv21173681	Submitted genomic		NC_000008.10:g.(56 378339_56378839)_( 56392151_56392651) del	GRCh37 (hg19)		NC_000008.10	Chr8	56,378,839 (-500, +0)	56,392,151 (-0, +500)
essv21173682	Submitted genomic		NC_000008.10:g.(56 378339_56378839)_( 56392151_56392651) del	GRCh37 (hg19)		NC_000008.10	Chr8	56,378,839 (-500, +0)	56,392,151 (-0, +500)
essv21173683	Submitted genomic		NC_000008.10:g.(56 378339_56378839)_( 56392151_56392651) del	GRCh37 (hg19)		NC_000008.10	Chr8	56,378,839 (-500, +0)	56,392,151 (-0, +500)
essv21173684	Submitted genomic		NC_000008.10:g.(56 378339_56378839)_( 56392151_56392651) del	GRCh37 (hg19)		NC_000008.10	Chr8	56,378,839 (-500, +0)	56,392,151 (-0, +500)
essv21173685	Submitted genomic		NC_000008.10:g.(56 378339_56378839)_( 56392151_56392651) del	GRCh37 (hg19)		NC_000008.10	Chr8	56,378,839 (-500, +0)	56,392,151 (-0, +500)

dbVar

Database of genomic structural variation

esv3853887

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.