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dbVar

Database of genomic structural variation

esv2674539

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:16,496

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: 222 SVs from 44 studies. See in: genome view

Remapped(Score: Perfect):13,392,717-13,409,212

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
esv2674539	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	13,392,717	13,392,874	13,409,059	13,409,212
esv2674539	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	13,532,842	13,532,999	13,549,184	13,549,337

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv5974641	deletion	SAMN00014351	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,484
essv6566800	deletion	SAMN00014348	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,196

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
essv5974641	Remapped	Perfect	NC_000002.12:g.(13 392717_13392874)_( 13409059_13409212) del	GRCh38.p12	First Pass	NC_000002.12	Chr2	13,392,717	13,392,874	13,409,059	13,409,212
essv6566800	Remapped	Perfect	NC_000002.12:g.(13 392717_13392874)_( 13409059_13409212) del	GRCh38.p12	First Pass	NC_000002.12	Chr2	13,392,717	13,392,874	13,409,059	13,409,212
essv5974641	Submitted genomic		NC_000002.11:g.(13 532842_13532999)_( 13549184_13549337) del	GRCh37 (hg19)		NC_000002.11	Chr2	13,532,842	13,532,999	13,549,184	13,549,337
essv6566800	Submitted genomic		NC_000002.11:g.(13 532842_13532999)_( 13549184_13549337) del	GRCh37 (hg19)		NC_000002.11	Chr2	13,532,842	13,532,999	13,549,184	13,549,337

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv6566800	7	SAMN00014348	SNP array	Probe signal intensity	Pass
essv5974641	7	SAMN00014351	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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