esv3865854

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:30
Validation:Not tested
Clinical Assertions: No
Region Size:16,588

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: 282 SVs from 47 studies. See in: genome view

Remapped(Score: Perfect):126,365,411-126,381,998

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3865854	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	126,365,411	126,381,998
esv3865854	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000011.9	Chr11	126,235,306	126,251,893

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv22607521	copy number loss	HG01865	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,541
essv22607522	copy number loss	HG02522	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,456
essv22607523	copy number gain	HG01889	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,246
essv22607524	copy number gain	HG01953	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,116
essv22607525	copy number gain	HG02465	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,912
essv22607526	copy number gain	HG02557	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,713
essv22607527	copy number gain	HG02562	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,911
essv22607528	copy number gain	HG02568	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,026
essv22607529	copy number gain	HG02595	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,772
essv22607530	copy number gain	HG02702	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,121
essv22607531	copy number gain	HG02771	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,178
essv22607532	copy number gain	HG02772	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,888
essv22607533	copy number gain	HG02808	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,842
essv22607534	copy number gain	HG02813	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,974
essv22607535	copy number gain	HG02839	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,026
essv22607536	copy number variation	HG02890	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,920
essv22607537	copy number gain	HG02895	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,924
essv22607538	copy number gain	HG03039	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,126
essv22607539	copy number gain	HG03054	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,343
essv22607540	copy number gain	HG03224	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,231
essv22607541	copy number gain	HG03246	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,863
essv22607542	copy number gain	HG03432	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,484
essv22607543	copy number gain	HG03460	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,875
essv22607544	copy number gain	HG03473	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,659
essv22607545	copy number gain	NA07048	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,606
essv22607546	copy number gain	NA19201	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,189
essv22607547	copy number gain	NA20852	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,652
essv22607548	copy number gain	HG02643	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,879
essv22607549	copy number gain	HG02678	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,126
essv22607550	copy number variation	HG02890	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,920

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv22607521	Remapped	Perfect	NC_000011.10:g.126 365411_126381998de l	GRCh38.p12	First Pass	NC_000011.10	Chr11	126,365,411	126,381,998
essv22607522	Remapped	Perfect	NC_000011.10:g.126 365411_126381998de l	GRCh38.p12	First Pass	NC_000011.10	Chr11	126,365,411	126,381,998
essv22607523	Remapped	Perfect	NC_000011.10:g.126 365411_126381998du p	GRCh38.p12	First Pass	NC_000011.10	Chr11	126,365,411	126,381,998
essv22607524	Remapped	Perfect	NC_000011.10:g.126 365411_126381998du p	GRCh38.p12	First Pass	NC_000011.10	Chr11	126,365,411	126,381,998
essv22607525	Remapped	Perfect	NC_000011.10:g.126 365411_126381998du p	GRCh38.p12	First Pass	NC_000011.10	Chr11	126,365,411	126,381,998
essv22607526	Remapped	Perfect	NC_000011.10:g.126 365411_126381998du p	GRCh38.p12	First Pass	NC_000011.10	Chr11	126,365,411	126,381,998
essv22607527	Remapped	Perfect	NC_000011.10:g.126 365411_126381998du p	GRCh38.p12	First Pass	NC_000011.10	Chr11	126,365,411	126,381,998
essv22607528	Remapped	Perfect	NC_000011.10:g.126 365411_126381998du p	GRCh38.p12	First Pass	NC_000011.10	Chr11	126,365,411	126,381,998
essv22607529	Remapped	Perfect	NC_000011.10:g.126 365411_126381998du p	GRCh38.p12	First Pass	NC_000011.10	Chr11	126,365,411	126,381,998
essv22607530	Remapped	Perfect	NC_000011.10:g.126 365411_126381998du p	GRCh38.p12	First Pass	NC_000011.10	Chr11	126,365,411	126,381,998
essv22607531	Remapped	Perfect	NC_000011.10:g.126 365411_126381998du p	GRCh38.p12	First Pass	NC_000011.10	Chr11	126,365,411	126,381,998
essv22607532	Remapped	Perfect	NC_000011.10:g.126 365411_126381998du p	GRCh38.p12	First Pass	NC_000011.10	Chr11	126,365,411	126,381,998
essv22607533	Remapped	Perfect	NC_000011.10:g.126 365411_126381998du p	GRCh38.p12	First Pass	NC_000011.10	Chr11	126,365,411	126,381,998
essv22607534	Remapped	Perfect	NC_000011.10:g.126 365411_126381998du p	GRCh38.p12	First Pass	NC_000011.10	Chr11	126,365,411	126,381,998
essv22607535	Remapped	Perfect	NC_000011.10:g.126 365411_126381998du p	GRCh38.p12	First Pass	NC_000011.10	Chr11	126,365,411	126,381,998
essv22607536	Remapped	Perfect		GRCh38.p12	First Pass	NC_000011.10	Chr11	126,365,411	126,381,998
essv22607537	Remapped	Perfect	NC_000011.10:g.126 365411_126381998du p	GRCh38.p12	First Pass	NC_000011.10	Chr11	126,365,411	126,381,998
essv22607538	Remapped	Perfect	NC_000011.10:g.126 365411_126381998du p	GRCh38.p12	First Pass	NC_000011.10	Chr11	126,365,411	126,381,998
essv22607539	Remapped	Perfect	NC_000011.10:g.126 365411_126381998du p	GRCh38.p12	First Pass	NC_000011.10	Chr11	126,365,411	126,381,998
essv22607540	Remapped	Perfect	NC_000011.10:g.126 365411_126381998du p	GRCh38.p12	First Pass	NC_000011.10	Chr11	126,365,411	126,381,998
essv22607541	Remapped	Perfect	NC_000011.10:g.126 365411_126381998du p	GRCh38.p12	First Pass	NC_000011.10	Chr11	126,365,411	126,381,998
essv22607542	Remapped	Perfect	NC_000011.10:g.126 365411_126381998du p	GRCh38.p12	First Pass	NC_000011.10	Chr11	126,365,411	126,381,998
essv22607543	Remapped	Perfect	NC_000011.10:g.126 365411_126381998du p	GRCh38.p12	First Pass	NC_000011.10	Chr11	126,365,411	126,381,998
essv22607544	Remapped	Perfect	NC_000011.10:g.126 365411_126381998du p	GRCh38.p12	First Pass	NC_000011.10	Chr11	126,365,411	126,381,998
essv22607545	Remapped	Perfect	NC_000011.10:g.126 365411_126381998du p	GRCh38.p12	First Pass	NC_000011.10	Chr11	126,365,411	126,381,998
essv22607546	Remapped	Perfect	NC_000011.10:g.126 365411_126381998du p	GRCh38.p12	First Pass	NC_000011.10	Chr11	126,365,411	126,381,998
essv22607547	Remapped	Perfect	NC_000011.10:g.126 365411_126381998du p	GRCh38.p12	First Pass	NC_000011.10	Chr11	126,365,411	126,381,998
essv22607548	Remapped	Perfect	NC_000011.10:g.126 365411_126381998du p	GRCh38.p12	First Pass	NC_000011.10	Chr11	126,365,411	126,381,998
essv22607549	Remapped	Perfect	NC_000011.10:g.126 365411_126381998du p	GRCh38.p12	First Pass	NC_000011.10	Chr11	126,365,411	126,381,998
essv22607550	Remapped	Perfect		GRCh38.p12	First Pass	NC_000011.10	Chr11	126,365,411	126,381,998
essv22607521	Submitted genomic		NC_000011.9:g.1262 35306_126251893del	GRCh37 (hg19)		NC_000011.9	Chr11	126,235,306	126,251,893
essv22607522	Submitted genomic		NC_000011.9:g.1262 35306_126251893del	GRCh37 (hg19)		NC_000011.9	Chr11	126,235,306	126,251,893
essv22607523	Submitted genomic		NC_000011.9:g.1262 35306_126251893dup	GRCh37 (hg19)		NC_000011.9	Chr11	126,235,306	126,251,893
essv22607524	Submitted genomic		NC_000011.9:g.1262 35306_126251893dup	GRCh37 (hg19)		NC_000011.9	Chr11	126,235,306	126,251,893
essv22607525	Submitted genomic		NC_000011.9:g.1262 35306_126251893dup	GRCh37 (hg19)		NC_000011.9	Chr11	126,235,306	126,251,893
essv22607526	Submitted genomic		NC_000011.9:g.1262 35306_126251893dup	GRCh37 (hg19)		NC_000011.9	Chr11	126,235,306	126,251,893
essv22607527	Submitted genomic		NC_000011.9:g.1262 35306_126251893dup	GRCh37 (hg19)		NC_000011.9	Chr11	126,235,306	126,251,893
essv22607528	Submitted genomic		NC_000011.9:g.1262 35306_126251893dup	GRCh37 (hg19)		NC_000011.9	Chr11	126,235,306	126,251,893
essv22607529	Submitted genomic		NC_000011.9:g.1262 35306_126251893dup	GRCh37 (hg19)		NC_000011.9	Chr11	126,235,306	126,251,893
essv22607530	Submitted genomic		NC_000011.9:g.1262 35306_126251893dup	GRCh37 (hg19)		NC_000011.9	Chr11	126,235,306	126,251,893
essv22607531	Submitted genomic		NC_000011.9:g.1262 35306_126251893dup	GRCh37 (hg19)		NC_000011.9	Chr11	126,235,306	126,251,893
essv22607532	Submitted genomic		NC_000011.9:g.1262 35306_126251893dup	GRCh37 (hg19)		NC_000011.9	Chr11	126,235,306	126,251,893
essv22607533	Submitted genomic		NC_000011.9:g.1262 35306_126251893dup	GRCh37 (hg19)		NC_000011.9	Chr11	126,235,306	126,251,893
essv22607534	Submitted genomic		NC_000011.9:g.1262 35306_126251893dup	GRCh37 (hg19)		NC_000011.9	Chr11	126,235,306	126,251,893
essv22607535	Submitted genomic		NC_000011.9:g.1262 35306_126251893dup	GRCh37 (hg19)		NC_000011.9	Chr11	126,235,306	126,251,893
essv22607536	Submitted genomic			GRCh37 (hg19)		NC_000011.9	Chr11	126,235,306	126,251,893
essv22607537	Submitted genomic		NC_000011.9:g.1262 35306_126251893dup	GRCh37 (hg19)		NC_000011.9	Chr11	126,235,306	126,251,893
essv22607538	Submitted genomic		NC_000011.9:g.1262 35306_126251893dup	GRCh37 (hg19)		NC_000011.9	Chr11	126,235,306	126,251,893
essv22607539	Submitted genomic		NC_000011.9:g.1262 35306_126251893dup	GRCh37 (hg19)		NC_000011.9	Chr11	126,235,306	126,251,893
essv22607540	Submitted genomic		NC_000011.9:g.1262 35306_126251893dup	GRCh37 (hg19)		NC_000011.9	Chr11	126,235,306	126,251,893
essv22607541	Submitted genomic		NC_000011.9:g.1262 35306_126251893dup	GRCh37 (hg19)		NC_000011.9	Chr11	126,235,306	126,251,893
essv22607542	Submitted genomic		NC_000011.9:g.1262 35306_126251893dup	GRCh37 (hg19)		NC_000011.9	Chr11	126,235,306	126,251,893
essv22607543	Submitted genomic		NC_000011.9:g.1262 35306_126251893dup	GRCh37 (hg19)		NC_000011.9	Chr11	126,235,306	126,251,893
essv22607544	Submitted genomic		NC_000011.9:g.1262 35306_126251893dup	GRCh37 (hg19)		NC_000011.9	Chr11	126,235,306	126,251,893
essv22607545	Submitted genomic		NC_000011.9:g.1262 35306_126251893dup	GRCh37 (hg19)		NC_000011.9	Chr11	126,235,306	126,251,893
essv22607546	Submitted genomic		NC_000011.9:g.1262 35306_126251893dup	GRCh37 (hg19)		NC_000011.9	Chr11	126,235,306	126,251,893
essv22607547	Submitted genomic		NC_000011.9:g.1262 35306_126251893dup	GRCh37 (hg19)		NC_000011.9	Chr11	126,235,306	126,251,893
essv22607548	Submitted genomic		NC_000011.9:g.1262 35306_126251893dup	GRCh37 (hg19)		NC_000011.9	Chr11	126,235,306	126,251,893
essv22607549	Submitted genomic		NC_000011.9:g.1262 35306_126251893dup	GRCh37 (hg19)		NC_000011.9	Chr11	126,235,306	126,251,893
essv22607550	Submitted genomic			GRCh37 (hg19)		NC_000011.9	Chr11	126,235,306	126,251,893

dbVar

Database of genomic structural variation

esv3865854

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.