esv3890029

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:127,239

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: 617 SVs from 46 studies. See in: genome view

Remapped(Score: Perfect):127,625,395-127,752,662

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3890029	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	127,625,409 (-14, +15)	127,752,647 (-14, +15)
esv3890029	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	126,759,390 (-14, +15)	126,886,628 (-14, +15)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv25610852	deletion	HG00361	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,647
essv25610853	deletion	HG01366	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,679
essv25610854	deletion	HG02095	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,059
essv25610855	deletion	HG03123	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,821
essv25610856	deletion	HG03511	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,980
essv25610857	deletion	NA18499	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,783
essv25610858	deletion	NA18520	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,716
essv25610859	deletion	NA19332	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,777
essv25610860	deletion	NA20506	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,161
essv25610861	deletion	NA20530	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	4,153
essv25610862	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
essv25610852	Remapped	Perfect	NC_000023.11:g.(12 7625395_127625424) _(127752633_127752 662)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	127,625,409 (-14, +15)	127,752,647 (-14, +15)
essv25610853	Remapped	Perfect	NC_000023.11:g.(12 7625395_127625424) _(127752633_127752 662)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	127,625,409 (-14, +15)	127,752,647 (-14, +15)
essv25610854	Remapped	Perfect	NC_000023.11:g.(12 7625395_127625424) _(127752633_127752 662)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	127,625,409 (-14, +15)	127,752,647 (-14, +15)
essv25610855	Remapped	Perfect	NC_000023.11:g.(12 7625395_127625424) _(127752633_127752 662)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	127,625,409 (-14, +15)	127,752,647 (-14, +15)
essv25610856	Remapped	Perfect	NC_000023.11:g.(12 7625395_127625424) _(127752633_127752 662)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	127,625,409 (-14, +15)	127,752,647 (-14, +15)
essv25610857	Remapped	Perfect	NC_000023.11:g.(12 7625395_127625424) _(127752633_127752 662)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	127,625,409 (-14, +15)	127,752,647 (-14, +15)
essv25610858	Remapped	Perfect	NC_000023.11:g.(12 7625395_127625424) _(127752633_127752 662)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	127,625,409 (-14, +15)	127,752,647 (-14, +15)
essv25610859	Remapped	Perfect	NC_000023.11:g.(12 7625395_127625424) _(127752633_127752 662)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	127,625,409 (-14, +15)	127,752,647 (-14, +15)
essv25610860	Remapped	Perfect	NC_000023.11:g.(12 7625395_127625424) _(127752633_127752 662)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	127,625,409 (-14, +15)	127,752,647 (-14, +15)
essv25610861	Remapped	Perfect	NC_000023.11:g.(12 7625395_127625424) _(127752633_127752 662)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	127,625,409 (-14, +15)	127,752,647 (-14, +15)
essv25610862	Remapped	Perfect	NC_000023.11:g.(12 7625395_127625424) _(127752633_127752 662)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	127,625,409 (-14, +15)	127,752,647 (-14, +15)
essv25610852	Submitted genomic		NC_000023.10:g.(12 6759376_126759405) _(126886614_126886 643)del	GRCh37 (hg19)		NC_000023.10	ChrX	126,759,390 (-14, +15)	126,886,628 (-14, +15)
essv25610853	Submitted genomic		NC_000023.10:g.(12 6759376_126759405) _(126886614_126886 643)del	GRCh37 (hg19)		NC_000023.10	ChrX	126,759,390 (-14, +15)	126,886,628 (-14, +15)
essv25610854	Submitted genomic		NC_000023.10:g.(12 6759376_126759405) _(126886614_126886 643)del	GRCh37 (hg19)		NC_000023.10	ChrX	126,759,390 (-14, +15)	126,886,628 (-14, +15)
essv25610855	Submitted genomic		NC_000023.10:g.(12 6759376_126759405) _(126886614_126886 643)del	GRCh37 (hg19)		NC_000023.10	ChrX	126,759,390 (-14, +15)	126,886,628 (-14, +15)
essv25610856	Submitted genomic		NC_000023.10:g.(12 6759376_126759405) _(126886614_126886 643)del	GRCh37 (hg19)		NC_000023.10	ChrX	126,759,390 (-14, +15)	126,886,628 (-14, +15)
essv25610857	Submitted genomic		NC_000023.10:g.(12 6759376_126759405) _(126886614_126886 643)del	GRCh37 (hg19)		NC_000023.10	ChrX	126,759,390 (-14, +15)	126,886,628 (-14, +15)
essv25610858	Submitted genomic		NC_000023.10:g.(12 6759376_126759405) _(126886614_126886 643)del	GRCh37 (hg19)		NC_000023.10	ChrX	126,759,390 (-14, +15)	126,886,628 (-14, +15)
essv25610859	Submitted genomic		NC_000023.10:g.(12 6759376_126759405) _(126886614_126886 643)del	GRCh37 (hg19)		NC_000023.10	ChrX	126,759,390 (-14, +15)	126,886,628 (-14, +15)
essv25610860	Submitted genomic		NC_000023.10:g.(12 6759376_126759405) _(126886614_126886 643)del	GRCh37 (hg19)		NC_000023.10	ChrX	126,759,390 (-14, +15)	126,886,628 (-14, +15)
essv25610861	Submitted genomic		NC_000023.10:g.(12 6759376_126759405) _(126886614_126886 643)del	GRCh37 (hg19)		NC_000023.10	ChrX	126,759,390 (-14, +15)	126,886,628 (-14, +15)
essv25610862	Submitted genomic		NC_000023.10:g.(12 6759376_126759405) _(126886614_126886 643)del	GRCh37 (hg19)		NC_000023.10	ChrX	126,759,390 (-14, +15)	126,886,628 (-14, +15)

dbVar

Database of genomic structural variation

esv3890029

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.