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dbVar

Database of genomic structural variation

esv2659953

Organism: Homo sapiens

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

Variant Calls:8
Validation:Yes
Clinical Assertions: No
Region Size:10,728

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: 149 SVs from 46 studies. See in: genome view

Remapped(Score: Perfect):41,585,596-41,596,323

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv2659953	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	41,585,596	41,596,323
esv2659953	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	41,585,698	41,596,425

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv5423449	deletion	SAMN00000522	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,036
essv5483276	deletion	SAMN00000511	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,272
essv5794701	deletion	SAMN00000533	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,138
essv5943054	deletion	SAMN00001031	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,188
essv6125677	deletion	SAMN00006498	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,657
essv6242980	deletion	SAMN00000512	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,038
essv6271742	deletion	SAMN00000516	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,091
essv6425817	deletion	SAMN00001641	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,148

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv5423449	Remapped	Perfect	NC_000005.10:g.415 85596_41596323delA	GRCh38.p12	First Pass	NC_000005.10	Chr5	41,585,596	41,596,323
essv5483276	Remapped	Perfect	NC_000005.10:g.415 85596_41596323delA	GRCh38.p12	First Pass	NC_000005.10	Chr5	41,585,596	41,596,323
essv5794701	Remapped	Perfect	NC_000005.10:g.415 85596_41596323delA	GRCh38.p12	First Pass	NC_000005.10	Chr5	41,585,596	41,596,323
essv5943054	Remapped	Perfect	NC_000005.10:g.415 85596_41596323delA	GRCh38.p12	First Pass	NC_000005.10	Chr5	41,585,596	41,596,323
essv6125677	Remapped	Perfect	NC_000005.10:g.415 85596_41596323delA	GRCh38.p12	First Pass	NC_000005.10	Chr5	41,585,596	41,596,323
essv6242980	Remapped	Perfect	NC_000005.10:g.415 85596_41596323delA	GRCh38.p12	First Pass	NC_000005.10	Chr5	41,585,596	41,596,323
essv6271742	Remapped	Perfect	NC_000005.10:g.415 85596_41596323delA	GRCh38.p12	First Pass	NC_000005.10	Chr5	41,585,596	41,596,323
essv6425817	Remapped	Perfect	NC_000005.10:g.415 85596_41596323delA	GRCh38.p12	First Pass	NC_000005.10	Chr5	41,585,596	41,596,323
essv5423449	Submitted genomic		NC_000005.9:g.4158 5698_41596425delA	GRCh37 (hg19)		NC_000005.9	Chr5	41,585,698	41,596,425
essv5483276	Submitted genomic		NC_000005.9:g.4158 5698_41596425delA	GRCh37 (hg19)		NC_000005.9	Chr5	41,585,698	41,596,425
essv5794701	Submitted genomic		NC_000005.9:g.4158 5698_41596425delA	GRCh37 (hg19)		NC_000005.9	Chr5	41,585,698	41,596,425
essv5943054	Submitted genomic		NC_000005.9:g.4158 5698_41596425delA	GRCh37 (hg19)		NC_000005.9	Chr5	41,585,698	41,596,425
essv6125677	Submitted genomic		NC_000005.9:g.4158 5698_41596425delA	GRCh37 (hg19)		NC_000005.9	Chr5	41,585,698	41,596,425
essv6242980	Submitted genomic		NC_000005.9:g.4158 5698_41596425delA	GRCh37 (hg19)		NC_000005.9	Chr5	41,585,698	41,596,425
essv6271742	Submitted genomic		NC_000005.9:g.4158 5698_41596425delA	GRCh37 (hg19)		NC_000005.9	Chr5	41,585,698	41,596,425
essv6425817	Submitted genomic		NC_000005.9:g.4158 5698_41596425delA	GRCh37 (hg19)		NC_000005.9	Chr5	41,585,698	41,596,425

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv5483276	7	SAMN00000511	SNP array	Probe signal intensity	Pass
essv6242980	7	SAMN00000512	SNP array	Probe signal intensity	Pass
essv6271742	7	SAMN00000516	SNP array	Probe signal intensity	Pass
essv5423449	7	SAMN00000522	SNP array	Probe signal intensity	Pass
essv5794701	7	SAMN00000533	SNP array	Probe signal intensity	Pass
essv5943054	7	SAMN00001031	SNP array	Probe signal intensity	Pass
essv6425817	7	SAMN00001641	SNP array	Probe signal intensity	Pass
essv6125677	7	SAMN00006498	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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