Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

esv2670658

Organism: Homo sapiens

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

Variant Calls:7
Validation:Yes
Clinical Assertions: No
Region Size:12,313

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

Remapped(Score: Perfect):76,034,578-76,046,890

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv2670658	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	76,034,578	76,046,890
esv2670658	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	76,083,729	76,096,041

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv5621126	deletion	SAMN00000574	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,208
essv5627192	deletion	SAMN00001142	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,523
essv5819716	deletion	SAMN00001127	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,924
essv6189079	deletion	SAMN00007700	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,460
essv6295585	deletion	SAMN00001180	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,453
essv6486479	deletion	SAMN00001674	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,625
essv6514951	deletion	SAMN00001140	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,625

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv5621126	Remapped	Perfect	NC_000003.12:g.760 34578_76046890delA	GRCh38.p12	First Pass	NC_000003.12	Chr3	76,034,578	76,046,890
essv5627192	Remapped	Perfect	NC_000003.12:g.760 34578_76046890delA	GRCh38.p12	First Pass	NC_000003.12	Chr3	76,034,578	76,046,890
essv5819716	Remapped	Perfect	NC_000003.12:g.760 34578_76046890delA	GRCh38.p12	First Pass	NC_000003.12	Chr3	76,034,578	76,046,890
essv6189079	Remapped	Perfect	NC_000003.12:g.760 34578_76046890delA	GRCh38.p12	First Pass	NC_000003.12	Chr3	76,034,578	76,046,890
essv6295585	Remapped	Perfect	NC_000003.12:g.760 34578_76046890delA	GRCh38.p12	First Pass	NC_000003.12	Chr3	76,034,578	76,046,890
essv6486479	Remapped	Perfect	NC_000003.12:g.760 34578_76046890delA	GRCh38.p12	First Pass	NC_000003.12	Chr3	76,034,578	76,046,890
essv6514951	Remapped	Perfect	NC_000003.12:g.760 34578_76046890delA	GRCh38.p12	First Pass	NC_000003.12	Chr3	76,034,578	76,046,890
essv5621126	Submitted genomic		NC_000003.11:g.760 83729_76096041delA	GRCh37 (hg19)		NC_000003.11	Chr3	76,083,729	76,096,041
essv5627192	Submitted genomic		NC_000003.11:g.760 83729_76096041delA	GRCh37 (hg19)		NC_000003.11	Chr3	76,083,729	76,096,041
essv5819716	Submitted genomic		NC_000003.11:g.760 83729_76096041delA	GRCh37 (hg19)		NC_000003.11	Chr3	76,083,729	76,096,041
essv6189079	Submitted genomic		NC_000003.11:g.760 83729_76096041delA	GRCh37 (hg19)		NC_000003.11	Chr3	76,083,729	76,096,041
essv6295585	Submitted genomic		NC_000003.11:g.760 83729_76096041delA	GRCh37 (hg19)		NC_000003.11	Chr3	76,083,729	76,096,041
essv6486479	Submitted genomic		NC_000003.11:g.760 83729_76096041delA	GRCh37 (hg19)		NC_000003.11	Chr3	76,083,729	76,096,041
essv6514951	Submitted genomic		NC_000003.11:g.760 83729_76096041delA	GRCh37 (hg19)		NC_000003.11	Chr3	76,083,729	76,096,041

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv5621126	7	SAMN00000574	SNP array	Probe signal intensity	Pass
essv5819716	7	SAMN00001127	SNP array	Probe signal intensity	Pass
essv6514951	7	SAMN00001140	SNP array	Probe signal intensity	Pass
essv5627192	7	SAMN00001142	SNP array	Probe signal intensity	Pass
essv6295585	7	SAMN00001180	SNP array	Probe signal intensity	Pass
essv6486479	7	SAMN00001674	SNP array	Probe signal intensity	Pass
essv6189079	7	SAMN00007700	SNP array	Probe signal intensity	Pass

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

You are here: NCBI