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dbVar

Database of genomic structural variation

esv2676382

Organism: Homo sapiens

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

Variant Calls:7
Validation:Yes
Clinical Assertions: No
Region Size:30,635

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: 1099 SVs from 83 studies. See in: genome view

Remapped(Score: Perfect):40,838,679-40,869,313

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv2676382	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	40,838,679	40,869,313
esv2676382	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	41,344,584	41,375,218

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv5888278	deletion	SAMN00001156	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,716
essv5967365	deletion	SAMN00000440	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,197
essv6065210	deletion	SAMN00007723	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,255
essv6165604	deletion	SAMN00006391	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,759
essv6277081	deletion	SAMN00006595	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,660
essv6366305	deletion	SAMN00014330	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,706
essv6588116	deletion	SAMN00009105	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,619

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv5888278	Remapped	Perfect	NC_000019.10:g.408 38679_40869313delT CTTTCT	GRCh38.p12	First Pass	NC_000019.10	Chr19	40,838,679	40,869,313
essv5967365	Remapped	Perfect	NC_000019.10:g.408 38679_40869313delT CTTTCT	GRCh38.p12	First Pass	NC_000019.10	Chr19	40,838,679	40,869,313
essv6065210	Remapped	Perfect	NC_000019.10:g.408 38679_40869313delT CTTTCT	GRCh38.p12	First Pass	NC_000019.10	Chr19	40,838,679	40,869,313
essv6165604	Remapped	Perfect	NC_000019.10:g.408 38679_40869313delT CTTTCT	GRCh38.p12	First Pass	NC_000019.10	Chr19	40,838,679	40,869,313
essv6277081	Remapped	Perfect	NC_000019.10:g.408 38679_40869313delT CTTTCT	GRCh38.p12	First Pass	NC_000019.10	Chr19	40,838,679	40,869,313
essv6366305	Remapped	Perfect	NC_000019.10:g.408 38679_40869313delT CTTTCT	GRCh38.p12	First Pass	NC_000019.10	Chr19	40,838,679	40,869,313
essv6588116	Remapped	Perfect	NC_000019.10:g.408 38679_40869313delT CTTTCT	GRCh38.p12	First Pass	NC_000019.10	Chr19	40,838,679	40,869,313
essv5888278	Submitted genomic		NC_000019.9:g.4134 4584_41375218delTC TTTCT	GRCh37 (hg19)		NC_000019.9	Chr19	41,344,584	41,375,218
essv5967365	Submitted genomic		NC_000019.9:g.4134 4584_41375218delTC TTTCT	GRCh37 (hg19)		NC_000019.9	Chr19	41,344,584	41,375,218
essv6065210	Submitted genomic		NC_000019.9:g.4134 4584_41375218delTC TTTCT	GRCh37 (hg19)		NC_000019.9	Chr19	41,344,584	41,375,218
essv6165604	Submitted genomic		NC_000019.9:g.4134 4584_41375218delTC TTTCT	GRCh37 (hg19)		NC_000019.9	Chr19	41,344,584	41,375,218
essv6277081	Submitted genomic		NC_000019.9:g.4134 4584_41375218delTC TTTCT	GRCh37 (hg19)		NC_000019.9	Chr19	41,344,584	41,375,218
essv6366305	Submitted genomic		NC_000019.9:g.4134 4584_41375218delTC TTTCT	GRCh37 (hg19)		NC_000019.9	Chr19	41,344,584	41,375,218
essv6588116	Submitted genomic		NC_000019.9:g.4134 4584_41375218delTC TTTCT	GRCh37 (hg19)		NC_000019.9	Chr19	41,344,584	41,375,218

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv5967365	9	SAMN00000440	Oligo aCGH	Probe signal intensity	Pass
essv5888278	9	SAMN00001156	Oligo aCGH	Probe signal intensity	Pass
essv6165604	9	SAMN00006391	Oligo aCGH	Probe signal intensity	Pass
essv6277081	9	SAMN00006595	Oligo aCGH	Probe signal intensity	Pass
essv6065210	9	SAMN00007723	Oligo aCGH	Probe signal intensity	Pass
essv6588116	9	SAMN00009105	Oligo aCGH	Probe signal intensity	Pass
essv6366305	9	SAMN00014330	Oligo aCGH	Probe signal intensity	Pass
essv5967365	7	SAMN00000440	SNP array	Probe signal intensity	Pass
essv5888278	7	SAMN00001156	SNP array	Probe signal intensity	Pass
essv6165604	7	SAMN00006391	SNP array	Probe signal intensity	Pass
essv6277081	7	SAMN00006595	SNP array	Probe signal intensity	Pass
essv6065210	7	SAMN00007723	SNP array	Probe signal intensity	Pass
essv6588116	7	SAMN00009105	SNP array	Probe signal intensity	Pass
essv6366305	7	SAMN00014330	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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