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dbVar

Database of genomic structural variation

esv2656934

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:15,034

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: 142 SVs from 36 studies. See in: genome view

Remapped(Score: Perfect):57,666,908-57,681,941

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
esv2656934	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	57,666,908	57,666,945	57,681,891	57,681,941
esv2656934	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000014.8	Chr14	58,133,626	58,133,663	58,148,609	58,148,659

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv5845109	deletion	SAMN00009139	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,778
essv6039211	deletion	SAMN00001629	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,430
essv6238844	deletion	SAMN00001583	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,451

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
essv5845109	Remapped	Perfect	NC_000014.9:g.(576 66908_57666945)_(5 7681891_57681941)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	57,666,908	57,666,945	57,681,891	57,681,941
essv6039211	Remapped	Perfect	NC_000014.9:g.(576 66908_57666945)_(5 7681891_57681941)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	57,666,908	57,666,945	57,681,891	57,681,941
essv6238844	Remapped	Perfect	NC_000014.9:g.(576 66908_57666945)_(5 7681891_57681941)d el	GRCh38.p12	First Pass	NC_000014.9	Chr14	57,666,908	57,666,945	57,681,891	57,681,941
essv5845109	Submitted genomic		NC_000014.8:g.(581 33626_58133663)_(5 8148609_58148659)d el	GRCh37 (hg19)		NC_000014.8	Chr14	58,133,626	58,133,663	58,148,609	58,148,659
essv6039211	Submitted genomic		NC_000014.8:g.(581 33626_58133663)_(5 8148609_58148659)d el	GRCh37 (hg19)		NC_000014.8	Chr14	58,133,626	58,133,663	58,148,609	58,148,659
essv6238844	Submitted genomic		NC_000014.8:g.(581 33626_58133663)_(5 8148609_58148659)d el	GRCh37 (hg19)		NC_000014.8	Chr14	58,133,626	58,133,663	58,148,609	58,148,659

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv6238844	7	SAMN00001583	SNP array	Probe signal intensity	Pass
essv6039211	7	SAMN00001629	SNP array	Probe signal intensity	Pass
essv5845109	7	SAMN00009139	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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