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dbVar

Database of genomic structural variation

esv2677380

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:20,455

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: 526 SVs from 71 studies. See in: genome view

Remapped(Score: Perfect):189,447,268-189,467,722

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv2677380	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	189,447,268	189,467,722
esv2677380	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	189,416,398	189,436,852

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv5451590	deletion	SAMN00007822	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,310
essv5546684	deletion	SAMN00007818	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,316
essv5596101	deletion	SAMN00006595	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,660
essv6014579	deletion	SAMN00001180	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,453
essv6106326	deletion	SAMN00007814	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,162

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv5451590	Remapped	Perfect	NC_000001.11:g.189 447268_189467722de lT	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,447,268	189,467,722
essv5546684	Remapped	Perfect	NC_000001.11:g.189 447268_189467722de lT	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,447,268	189,467,722
essv5596101	Remapped	Perfect	NC_000001.11:g.189 447268_189467722de lT	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,447,268	189,467,722
essv6014579	Remapped	Perfect	NC_000001.11:g.189 447268_189467722de lT	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,447,268	189,467,722
essv6106326	Remapped	Perfect	NC_000001.11:g.189 447268_189467722de lT	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,447,268	189,467,722
essv5451590	Submitted genomic		NC_000001.10:g.189 416398_189436852de lT	GRCh37 (hg19)		NC_000001.10	Chr1	189,416,398	189,436,852
essv5546684	Submitted genomic		NC_000001.10:g.189 416398_189436852de lT	GRCh37 (hg19)		NC_000001.10	Chr1	189,416,398	189,436,852
essv5596101	Submitted genomic		NC_000001.10:g.189 416398_189436852de lT	GRCh37 (hg19)		NC_000001.10	Chr1	189,416,398	189,436,852
essv6014579	Submitted genomic		NC_000001.10:g.189 416398_189436852de lT	GRCh37 (hg19)		NC_000001.10	Chr1	189,416,398	189,436,852
essv6106326	Submitted genomic		NC_000001.10:g.189 416398_189436852de lT	GRCh37 (hg19)		NC_000001.10	Chr1	189,416,398	189,436,852

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv6014579	7	SAMN00001180	SNP array	Probe signal intensity	Pass
essv5596101	7	SAMN00006595	SNP array	Probe signal intensity	Pass
essv6106326	7	SAMN00007814	SNP array	Probe signal intensity	Pass
essv5546684	7	SAMN00007818	SNP array	Probe signal intensity	Pass
essv5451590	7	SAMN00007822	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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