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dbVar

Database of genomic structural variation

esv2659930

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:18,849

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

Remapped(Score: Perfect):72,537,502-72,556,350

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
esv2659930	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	72,537,502	72,537,659	72,556,197	72,556,350
esv2659930	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	72,571,401	72,571,558	72,590,096	72,590,249

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv5510291	deletion	SAMN00016974	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,135
essv5580789	deletion	SAMN00016966	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,024
essv5581290	deletion	SAMN00006376	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,157
essv5624377	deletion	SAMN00016977	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,190

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
essv5510291	Remapped	Perfect	NC_000016.10:g.(72 537502_72537659)_( 72556197_72556350) del	GRCh38.p12	First Pass	NC_000016.10	Chr16	72,537,502	72,537,659	72,556,197	72,556,350
essv5580789	Remapped	Perfect	NC_000016.10:g.(72 537502_72537659)_( 72556197_72556350) del	GRCh38.p12	First Pass	NC_000016.10	Chr16	72,537,502	72,537,659	72,556,197	72,556,350
essv5581290	Remapped	Perfect	NC_000016.10:g.(72 537502_72537659)_( 72556197_72556350) del	GRCh38.p12	First Pass	NC_000016.10	Chr16	72,537,502	72,537,659	72,556,197	72,556,350
essv5624377	Remapped	Perfect	NC_000016.10:g.(72 537502_72537659)_( 72556197_72556350) del	GRCh38.p12	First Pass	NC_000016.10	Chr16	72,537,502	72,537,659	72,556,197	72,556,350
essv5510291	Submitted genomic		NC_000016.9:g.(725 71401_72571558)_(7 2590096_72590249)d el	GRCh37 (hg19)		NC_000016.9	Chr16	72,571,401	72,571,558	72,590,096	72,590,249
essv5580789	Submitted genomic		NC_000016.9:g.(725 71401_72571558)_(7 2590096_72590249)d el	GRCh37 (hg19)		NC_000016.9	Chr16	72,571,401	72,571,558	72,590,096	72,590,249
essv5581290	Submitted genomic		NC_000016.9:g.(725 71401_72571558)_(7 2590096_72590249)d el	GRCh37 (hg19)		NC_000016.9	Chr16	72,571,401	72,571,558	72,590,096	72,590,249
essv5624377	Submitted genomic		NC_000016.9:g.(725 71401_72571558)_(7 2590096_72590249)d el	GRCh37 (hg19)		NC_000016.9	Chr16	72,571,401	72,571,558	72,590,096	72,590,249

Validation Information

Variant Call ID	Experiment ID	Sample ID	Method	Analysis	Result
essv5581290	7	SAMN00006376	SNP array	Probe signal intensity	Pass
essv5580789	7	SAMN00016966	SNP array	Probe signal intensity	Pass
essv5510291	7	SAMN00016974	SNP array	Probe signal intensity	Pass
essv5624377	7	SAMN00016977	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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