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dbVar

Database of genomic structural variation

esv2659334

Organism: Homo sapiens

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

Variant Calls:2
Validation:Yes
Clinical Assertions: No
Region Size:150,164

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: 492 SVs from 54 studies. See in: genome view

Remapped(Score: Perfect):79,491,611-79,641,774

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv2659334	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	79,491,611	79,641,774
esv2659334	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	79,957,296	80,107,459

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv6084551	deletion	SAMN00006589	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,904
essv6143122	deletion	SAMN00004632	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,111

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv6084551	Remapped	Perfect	NC_000001.11:g.794 91611_79641774delT	GRCh38.p12	First Pass	NC_000001.11	Chr1	79,491,611	79,641,774
essv6143122	Remapped	Perfect	NC_000001.11:g.794 91611_79641774delT	GRCh38.p12	First Pass	NC_000001.11	Chr1	79,491,611	79,641,774
essv6084551	Submitted genomic		NC_000001.10:g.799 57296_80107459delT	GRCh37 (hg19)		NC_000001.10	Chr1	79,957,296	80,107,459
essv6143122	Submitted genomic		NC_000001.10:g.799 57296_80107459delT	GRCh37 (hg19)		NC_000001.10	Chr1	79,957,296	80,107,459

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv6143122	7	SAMN00004632	SNP array	Probe signal intensity	Pass
essv6084551	7	SAMN00006589	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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