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dbVar

Database of genomic structural variation

esv2665103

Organism: Homo sapiens

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

Variant Calls:4
Validation:Yes
Clinical Assertions: No
Region Size:9,081

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: 270 SVs from 48 studies. See in: genome view

Remapped(Score: Perfect):8,163,450-8,172,530

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
esv2665103	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	8,163,450	8,163,607	8,172,377	8,172,530
esv2665103	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	8,165,177	8,165,334	8,174,104	8,174,257

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv5611848	deletion	SAMN00000446	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,545
essv5827180	deletion	SAMN00006453	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,472
essv5998582	deletion	SAMN00006477	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,675
essv6065022	deletion	SAMN00001595	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,210

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
essv5611848	Remapped	Perfect	NC_000004.12:g.(81 63450_8163607)_(81 72377_8172530)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	8,163,450	8,163,607	8,172,377	8,172,530
essv5827180	Remapped	Perfect	NC_000004.12:g.(81 63450_8163607)_(81 72377_8172530)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	8,163,450	8,163,607	8,172,377	8,172,530
essv5998582	Remapped	Perfect	NC_000004.12:g.(81 63450_8163607)_(81 72377_8172530)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	8,163,450	8,163,607	8,172,377	8,172,530
essv6065022	Remapped	Perfect	NC_000004.12:g.(81 63450_8163607)_(81 72377_8172530)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	8,163,450	8,163,607	8,172,377	8,172,530
essv5611848	Submitted genomic		NC_000004.11:g.(81 65177_8165334)_(81 74104_8174257)del	GRCh37 (hg19)		NC_000004.11	Chr4	8,165,177	8,165,334	8,174,104	8,174,257
essv5827180	Submitted genomic		NC_000004.11:g.(81 65177_8165334)_(81 74104_8174257)del	GRCh37 (hg19)		NC_000004.11	Chr4	8,165,177	8,165,334	8,174,104	8,174,257
essv5998582	Submitted genomic		NC_000004.11:g.(81 65177_8165334)_(81 74104_8174257)del	GRCh37 (hg19)		NC_000004.11	Chr4	8,165,177	8,165,334	8,174,104	8,174,257
essv6065022	Submitted genomic		NC_000004.11:g.(81 65177_8165334)_(81 74104_8174257)del	GRCh37 (hg19)		NC_000004.11	Chr4	8,165,177	8,165,334	8,174,104	8,174,257

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv5611848	7	SAMN00000446	SNP array	Probe signal intensity	Pass
essv6065022	7	SAMN00001595	SNP array	Probe signal intensity	Pass
essv5827180	7	SAMN00006453	SNP array	Probe signal intensity	Pass
essv5998582	7	SAMN00006477	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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