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dbVar

Database of genomic structural variation

esv3817736

Organism: Homo sapiens

Study:estd214 (1000 Genomes Consortium Phase 3)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:9
Validation:Not tested
Clinical Assertions: No
Region Size:94,971

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: 609 SVs from 44 studies. See in: genome view

Remapped(Score: Good):127,718,164-127,813,163

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3817736	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	127,718,178 (-14, +15)	127,813,148 (-14, +15)
esv3817736	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	126,852,159 (-14, +15)	126,947,127 (-14, +15)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv16916233	deletion	SAMN00004626	Sequencing	Read depth and paired-end mapping	Heterozygous	2,931
essv16916234	deletion	SAMN00006412	Sequencing	Read depth and paired-end mapping	Heterozygous	3,016
essv16916235	deletion	SAMN00014324	Sequencing	Read depth and paired-end mapping	Heterozygous	3,048
essv16916236	deletion	SAMN01761348	Sequencing	Read depth and paired-end mapping	Heterozygous	3,263
essv16916237	deletion	SAMN00001590	Sequencing	Read depth and paired-end mapping	Heterozygous	3,076
essv16916238	deletion	SAMN00001117	Sequencing	Read depth and paired-end mapping	Heterozygous	4,071
essv16916239	deletion	SAMN00001226	Sequencing	Read depth and paired-end mapping	Heterozygous	3,613
essv16916240	deletion	SAMN00001249	Sequencing	Read depth and paired-end mapping	Heterozygous	3,557
essv16916241	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
essv16916233	Remapped	Good	NC_000023.11:g.(12 7718164_127718193) _(127813134_127813 163)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	127,718,178 (-14, +15)	127,813,148 (-14, +15)
essv16916234	Remapped	Good	NC_000023.11:g.(12 7718164_127718193) _(127813134_127813 163)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	127,718,178 (-14, +15)	127,813,148 (-14, +15)
essv16916235	Remapped	Good	NC_000023.11:g.(12 7718164_127718193) _(127813134_127813 163)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	127,718,178 (-14, +15)	127,813,148 (-14, +15)
essv16916236	Remapped	Good	NC_000023.11:g.(12 7718164_127718193) _(127813134_127813 163)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	127,718,178 (-14, +15)	127,813,148 (-14, +15)
essv16916237	Remapped	Good	NC_000023.11:g.(12 7718164_127718193) _(127813134_127813 163)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	127,718,178 (-14, +15)	127,813,148 (-14, +15)
essv16916238	Remapped	Good	NC_000023.11:g.(12 7718164_127718193) _(127813134_127813 163)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	127,718,178 (-14, +15)	127,813,148 (-14, +15)
essv16916239	Remapped	Good	NC_000023.11:g.(12 7718164_127718193) _(127813134_127813 163)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	127,718,178 (-14, +15)	127,813,148 (-14, +15)
essv16916240	Remapped	Good	NC_000023.11:g.(12 7718164_127718193) _(127813134_127813 163)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	127,718,178 (-14, +15)	127,813,148 (-14, +15)
essv16916241	Remapped	Good	NC_000023.11:g.(12 7718164_127718193) _(127813134_127813 163)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	127,718,178 (-14, +15)	127,813,148 (-14, +15)
essv16916233	Submitted genomic		NC_000023.10:g.(12 6852145_126852174) _(126947113_126947 142)del	GRCh37 (hg19)		NC_000023.10	ChrX	126,852,159 (-14, +15)	126,947,127 (-14, +15)
essv16916234	Submitted genomic		NC_000023.10:g.(12 6852145_126852174) _(126947113_126947 142)del	GRCh37 (hg19)		NC_000023.10	ChrX	126,852,159 (-14, +15)	126,947,127 (-14, +15)
essv16916235	Submitted genomic		NC_000023.10:g.(12 6852145_126852174) _(126947113_126947 142)del	GRCh37 (hg19)		NC_000023.10	ChrX	126,852,159 (-14, +15)	126,947,127 (-14, +15)
essv16916236	Submitted genomic		NC_000023.10:g.(12 6852145_126852174) _(126947113_126947 142)del	GRCh37 (hg19)		NC_000023.10	ChrX	126,852,159 (-14, +15)	126,947,127 (-14, +15)
essv16916237	Submitted genomic		NC_000023.10:g.(12 6852145_126852174) _(126947113_126947 142)del	GRCh37 (hg19)		NC_000023.10	ChrX	126,852,159 (-14, +15)	126,947,127 (-14, +15)
essv16916238	Submitted genomic		NC_000023.10:g.(12 6852145_126852174) _(126947113_126947 142)del	GRCh37 (hg19)		NC_000023.10	ChrX	126,852,159 (-14, +15)	126,947,127 (-14, +15)
essv16916239	Submitted genomic		NC_000023.10:g.(12 6852145_126852174) _(126947113_126947 142)del	GRCh37 (hg19)		NC_000023.10	ChrX	126,852,159 (-14, +15)	126,947,127 (-14, +15)
essv16916240	Submitted genomic		NC_000023.10:g.(12 6852145_126852174) _(126947113_126947 142)del	GRCh37 (hg19)		NC_000023.10	ChrX	126,852,159 (-14, +15)	126,947,127 (-14, +15)
essv16916241	Submitted genomic		NC_000023.10:g.(12 6852145_126852174) _(126947113_126947 142)del	GRCh37 (hg19)		NC_000023.10	ChrX	126,852,159 (-14, +15)	126,947,127 (-14, +15)

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.

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