esv3817669

Organism: Homo sapiens

Study:estd214 (1000 Genomes Consortium Phase 3)
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 Project Consortium et al. 2015

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: 618 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
esv3817669	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	127,625,409 (-14, +15)	127,752,647 (-14, +15)
esv3817669	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
essv16904838	deletion	SAMN00006412	Sequencing	Read depth and paired-end mapping	Heterozygous	3,016
essv16904839	deletion	SAMN00014324	Sequencing	Read depth and paired-end mapping	Heterozygous	3,048
essv16904840	deletion	SAMN00630206	Sequencing	Read depth and paired-end mapping	Heterozygous	3,307
essv16904841	deletion	SAMN01036816	Sequencing	Read depth and paired-end mapping	Heterozygous	3,086
essv16904842	deletion	SAMN01761348	Sequencing	Read depth and paired-end mapping	Heterozygous	3,263
essv16904843	deletion	SAMN00001579	Sequencing	Read depth and paired-end mapping	Heterozygous	3,047
essv16904844	deletion	SAMN00001590	Sequencing	Read depth and paired-end mapping	Heterozygous	3,076
essv16904845	deletion	SAMN00001117	Sequencing	Read depth and paired-end mapping	Heterozygous	4,071
essv16904846	deletion	SAMN00001226	Sequencing	Read depth and paired-end mapping	Heterozygous	3,613
essv16904847	deletion	SAMN00001249	Sequencing	Read depth and paired-end mapping	Heterozygous	3,557
essv16904848	deletion	SAMN00001252	Sequencing	Read depth and paired-end mapping	Heterozygous	3,317

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv16904838	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)
essv16904839	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)
essv16904840	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)
essv16904841	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)
essv16904842	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)
essv16904843	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)
essv16904844	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)
essv16904845	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)
essv16904846	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)
essv16904847	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)
essv16904848	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)
essv16904838	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)
essv16904839	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)
essv16904840	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)
essv16904841	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)
essv16904842	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)
essv16904843	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)
essv16904844	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)
essv16904845	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)
essv16904846	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)
essv16904847	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)
essv16904848	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

esv3817669

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.