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dbVar

Database of genomic structural variation

esv2662987

Organism: Homo sapiens

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

Variant Calls:3
Validation:Yes
Clinical Assertions: No
Region Size:12,221

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: 340 SVs from 47 studies. See in: genome view

Remapped(Score: Perfect):16,404,635-16,416,855

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv2662987	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000021.9	Chr21	16,404,635	16,416,855
esv2662987	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000021.8	Chr21	17,776,955	17,789,175

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv5852045	deletion	SAMN00006487	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,553
essv6069246	deletion	SAMN00006469	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,602
essv6145208	deletion	SAMN00000510	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,141

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv5852045	Remapped	Perfect	NC_000021.9:g.1640 4635_16416855delC	GRCh38.p12	First Pass	NC_000021.9	Chr21	16,404,635	16,416,855
essv6069246	Remapped	Perfect	NC_000021.9:g.1640 4635_16416855delC	GRCh38.p12	First Pass	NC_000021.9	Chr21	16,404,635	16,416,855
essv6145208	Remapped	Perfect	NC_000021.9:g.1640 4635_16416855delC	GRCh38.p12	First Pass	NC_000021.9	Chr21	16,404,635	16,416,855
essv5852045	Submitted genomic		NC_000021.8:g.1777 6955_17789175delC	GRCh37 (hg19)		NC_000021.8	Chr21	17,776,955	17,789,175
essv6069246	Submitted genomic		NC_000021.8:g.1777 6955_17789175delC	GRCh37 (hg19)		NC_000021.8	Chr21	17,776,955	17,789,175
essv6145208	Submitted genomic		NC_000021.8:g.1777 6955_17789175delC	GRCh37 (hg19)		NC_000021.8	Chr21	17,776,955	17,789,175

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv6145208	7	SAMN00000510	SNP array	Probe signal intensity	Pass
essv6069246	7	SAMN00006469	SNP array	Probe signal intensity	Pass
essv5852045	7	SAMN00006487	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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