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dbVar

Database of genomic structural variation

esv2678224

Organism: Homo sapiens

Study:estd199 (1000 Genomes Consortium Phase 1)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37 (hg19)

Variant Calls:9
Validation:Yes
Clinical Assertions: No
Region Size:10,511

Description:High quality site
Publication(s):1000 Genomes Project Consortium et al. 2012

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: 416 SVs from 53 studies. See in: genome view

Remapped(Score: Perfect):13,476,720-13,487,230

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv2678224	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000021.9	Chr21	13,476,720	13,487,230
esv2678224	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000021.8	Chr21	14,849,041	14,859,551

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv5419450	deletion	SAMN00001121	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,383
essv5421232	deletion	SAMN00001166	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,284
essv5573125	deletion	SAMN00007821	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,807
essv5652146	deletion	SAMN00001155	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,570
essv5690623	deletion	SAMN00007807	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,402
essv5793338	deletion	SAMN00001147	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,637
essv5926294	deletion	SAMN00000474	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,357
essv6448074	deletion	SAMN00001148	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,511
essv6531364	deletion	SAMN00000476	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,421

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv5419450	Remapped	Perfect	NC_000021.9:g.1347 6720_13487230delA	GRCh38.p12	First Pass	NC_000021.9	Chr21	13,476,720	13,487,230
essv5421232	Remapped	Perfect	NC_000021.9:g.1347 6720_13487230delA	GRCh38.p12	First Pass	NC_000021.9	Chr21	13,476,720	13,487,230
essv5573125	Remapped	Perfect	NC_000021.9:g.1347 6720_13487230delA	GRCh38.p12	First Pass	NC_000021.9	Chr21	13,476,720	13,487,230
essv5652146	Remapped	Perfect	NC_000021.9:g.1347 6720_13487230delA	GRCh38.p12	First Pass	NC_000021.9	Chr21	13,476,720	13,487,230
essv5690623	Remapped	Perfect	NC_000021.9:g.1347 6720_13487230delA	GRCh38.p12	First Pass	NC_000021.9	Chr21	13,476,720	13,487,230
essv5793338	Remapped	Perfect	NC_000021.9:g.1347 6720_13487230delA	GRCh38.p12	First Pass	NC_000021.9	Chr21	13,476,720	13,487,230
essv5926294	Remapped	Perfect	NC_000021.9:g.1347 6720_13487230delA	GRCh38.p12	First Pass	NC_000021.9	Chr21	13,476,720	13,487,230
essv6448074	Remapped	Perfect	NC_000021.9:g.1347 6720_13487230delA	GRCh38.p12	First Pass	NC_000021.9	Chr21	13,476,720	13,487,230
essv6531364	Remapped	Perfect	NC_000021.9:g.1347 6720_13487230delA	GRCh38.p12	First Pass	NC_000021.9	Chr21	13,476,720	13,487,230
essv5419450	Submitted genomic		NC_000021.8:g.1484 9041_14859551delA	GRCh37 (hg19)		NC_000021.8	Chr21	14,849,041	14,859,551
essv5421232	Submitted genomic		NC_000021.8:g.1484 9041_14859551delA	GRCh37 (hg19)		NC_000021.8	Chr21	14,849,041	14,859,551
essv5573125	Submitted genomic		NC_000021.8:g.1484 9041_14859551delA	GRCh37 (hg19)		NC_000021.8	Chr21	14,849,041	14,859,551
essv5652146	Submitted genomic		NC_000021.8:g.1484 9041_14859551delA	GRCh37 (hg19)		NC_000021.8	Chr21	14,849,041	14,859,551
essv5690623	Submitted genomic		NC_000021.8:g.1484 9041_14859551delA	GRCh37 (hg19)		NC_000021.8	Chr21	14,849,041	14,859,551
essv5793338	Submitted genomic		NC_000021.8:g.1484 9041_14859551delA	GRCh37 (hg19)		NC_000021.8	Chr21	14,849,041	14,859,551
essv5926294	Submitted genomic		NC_000021.8:g.1484 9041_14859551delA	GRCh37 (hg19)		NC_000021.8	Chr21	14,849,041	14,859,551
essv6448074	Submitted genomic		NC_000021.8:g.1484 9041_14859551delA	GRCh37 (hg19)		NC_000021.8	Chr21	14,849,041	14,859,551
essv6531364	Submitted genomic		NC_000021.8:g.1484 9041_14859551delA	GRCh37 (hg19)		NC_000021.8	Chr21	14,849,041	14,859,551

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv5926294	7	SAMN00000474	SNP array	Probe signal intensity	Pass
essv6531364	7	SAMN00000476	SNP array	Probe signal intensity	Pass
essv5419450	7	SAMN00001121	SNP array	Probe signal intensity	Pass
essv5793338	7	SAMN00001147	SNP array	Probe signal intensity	Pass
essv6448074	7	SAMN00001148	SNP array	Probe signal intensity	Pass
essv5652146	7	SAMN00001155	SNP array	Probe signal intensity	Pass
essv5421232	7	SAMN00001166	SNP array	Probe signal intensity	Pass
essv5690623	7	SAMN00007807	SNP array	Probe signal intensity	Pass
essv5573125	7	SAMN00007821	SNP array	Probe signal intensity	Pass

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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