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dbVar

Database of genomic structural variation

esv2669206

Organism: Homo sapiens

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

Variant Calls:5
Validation:Yes
Clinical Assertions: No
Region Size:27,026

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: 643 SVs from 60 studies. See in: genome view

Remapped(Score: Perfect):28,740,087-28,767,112

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv2669206	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000009.12	Chr9	28,740,087	28,767,112
esv2669206	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000009.11	Chr9	28,740,085	28,767,110

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv5789528	deletion	SAMN00001103	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,547
essv5833822	deletion	SAMN00001592	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,597
essv6189784	deletion	SAMN00007786	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,118
essv6378819	deletion	SAMN00001632	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,311
essv6503390	deletion	SAMN00007809	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,340

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv5789528	Remapped	Perfect	NC_000009.12:g.287 40087_28767112delT	GRCh38.p12	First Pass	NC_000009.12	Chr9	28,740,087	28,767,112
essv5833822	Remapped	Perfect	NC_000009.12:g.287 40087_28767112delT	GRCh38.p12	First Pass	NC_000009.12	Chr9	28,740,087	28,767,112
essv6189784	Remapped	Perfect	NC_000009.12:g.287 40087_28767112delT	GRCh38.p12	First Pass	NC_000009.12	Chr9	28,740,087	28,767,112
essv6378819	Remapped	Perfect	NC_000009.12:g.287 40087_28767112delT	GRCh38.p12	First Pass	NC_000009.12	Chr9	28,740,087	28,767,112
essv6503390	Remapped	Perfect	NC_000009.12:g.287 40087_28767112delT	GRCh38.p12	First Pass	NC_000009.12	Chr9	28,740,087	28,767,112
essv5789528	Submitted genomic		NC_000009.11:g.287 40085_28767110delT	GRCh37 (hg19)		NC_000009.11	Chr9	28,740,085	28,767,110
essv5833822	Submitted genomic		NC_000009.11:g.287 40085_28767110delT	GRCh37 (hg19)		NC_000009.11	Chr9	28,740,085	28,767,110
essv6189784	Submitted genomic		NC_000009.11:g.287 40085_28767110delT	GRCh37 (hg19)		NC_000009.11	Chr9	28,740,085	28,767,110
essv6378819	Submitted genomic		NC_000009.11:g.287 40085_28767110delT	GRCh37 (hg19)		NC_000009.11	Chr9	28,740,085	28,767,110
essv6503390	Submitted genomic		NC_000009.11:g.287 40085_28767110delT	GRCh37 (hg19)		NC_000009.11	Chr9	28,740,085	28,767,110

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv5789528	7	SAMN00001103	SNP array	Probe signal intensity	Pass
essv5833822	7	SAMN00001592	SNP array	Probe signal intensity	Pass
essv6378819	7	SAMN00001632	SNP array	Probe signal intensity	Pass
essv6189784	7	SAMN00007786	SNP array	Probe signal intensity	Pass
essv6503390	7	SAMN00007809	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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