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dbVar

Database of genomic structural variation

esv2672149

Organism: Homo sapiens

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

Variant Calls:1
Validation:Yes
Clinical Assertions: No
Region Size:187,559

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: 404 SVs from 51 studies. See in: genome view

Remapped(Score: Perfect):104,136,138-104,323,696

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv2672149	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	104,136,138	104,323,696
esv2672149	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	105,057,295	105,244,853

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv6566258	deletion	SAMN00006383	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,723

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv6566258	Remapped	Perfect	NC_000004.12:g.104 136138_104323696de lC	GRCh38.p12	First Pass	NC_000004.12	Chr4	104,136,138	104,323,696
essv6566258	Submitted genomic		NC_000004.11:g.105 057295_105244853de lC	GRCh37 (hg19)		NC_000004.11	Chr4	105,057,295	105,244,853

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv6566258	7	SAMN00006383	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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