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dbVar

Database of genomic structural variation

esv2673711

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:Not tested
Clinical Assertions: No
Region Size:17,411

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: 367 SVs from 65 studies. See in: genome view

Remapped(Score: Perfect):74,383,505-74,400,915

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
esv2673711	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	74,383,505	74,383,662	74,400,762	74,400,915
esv2673711	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	74,417,403	74,417,560	74,434,660	74,434,813

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv5624011	deletion	SAMN00007713	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	994
essv5813415	deletion	SAMN00000429	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,527
essv5825391	deletion	SAMN00006525	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,128
essv5884544	deletion	SAMN00009117	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,813
essv5978255	deletion	SAMN00006442	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,722
essv6223902	deletion	SAMN00000444	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,523
essv6366591	deletion	SAMN00007717	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,210
essv6383975	deletion	SAMN00000922	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	1,153

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
essv5624011	Remapped	Perfect	NC_000016.10:g.(74 383505_74383662)_( 74400762_74400915) del	GRCh38.p12	First Pass	NC_000016.10	Chr16	74,383,505	74,383,662	74,400,762	74,400,915
essv5813415	Remapped	Perfect	NC_000016.10:g.(74 383505_74383662)_( 74400762_74400915) del	GRCh38.p12	First Pass	NC_000016.10	Chr16	74,383,505	74,383,662	74,400,762	74,400,915
essv5825391	Remapped	Perfect	NC_000016.10:g.(74 383505_74383662)_( 74400762_74400915) del	GRCh38.p12	First Pass	NC_000016.10	Chr16	74,383,505	74,383,662	74,400,762	74,400,915
essv5884544	Remapped	Perfect	NC_000016.10:g.(74 383505_74383662)_( 74400762_74400915) del	GRCh38.p12	First Pass	NC_000016.10	Chr16	74,383,505	74,383,662	74,400,762	74,400,915
essv5978255	Remapped	Perfect	NC_000016.10:g.(74 383505_74383662)_( 74400762_74400915) del	GRCh38.p12	First Pass	NC_000016.10	Chr16	74,383,505	74,383,662	74,400,762	74,400,915
essv6223902	Remapped	Perfect	NC_000016.10:g.(74 383505_74383662)_( 74400762_74400915) del	GRCh38.p12	First Pass	NC_000016.10	Chr16	74,383,505	74,383,662	74,400,762	74,400,915
essv6366591	Remapped	Perfect	NC_000016.10:g.(74 383505_74383662)_( 74400762_74400915) del	GRCh38.p12	First Pass	NC_000016.10	Chr16	74,383,505	74,383,662	74,400,762	74,400,915
essv6383975	Remapped	Perfect	NC_000016.10:g.(74 383505_74383662)_( 74400762_74400915) del	GRCh38.p12	First Pass	NC_000016.10	Chr16	74,383,505	74,383,662	74,400,762	74,400,915
essv5624011	Submitted genomic		NC_000016.9:g.(744 17403_74417560)_(7 4434660_74434813)d el	GRCh37 (hg19)		NC_000016.9	Chr16	74,417,403	74,417,560	74,434,660	74,434,813
essv5813415	Submitted genomic		NC_000016.9:g.(744 17403_74417560)_(7 4434660_74434813)d el	GRCh37 (hg19)		NC_000016.9	Chr16	74,417,403	74,417,560	74,434,660	74,434,813
essv5825391	Submitted genomic		NC_000016.9:g.(744 17403_74417560)_(7 4434660_74434813)d el	GRCh37 (hg19)		NC_000016.9	Chr16	74,417,403	74,417,560	74,434,660	74,434,813
essv5884544	Submitted genomic		NC_000016.9:g.(744 17403_74417560)_(7 4434660_74434813)d el	GRCh37 (hg19)		NC_000016.9	Chr16	74,417,403	74,417,560	74,434,660	74,434,813
essv5978255	Submitted genomic		NC_000016.9:g.(744 17403_74417560)_(7 4434660_74434813)d el	GRCh37 (hg19)		NC_000016.9	Chr16	74,417,403	74,417,560	74,434,660	74,434,813
essv6223902	Submitted genomic		NC_000016.9:g.(744 17403_74417560)_(7 4434660_74434813)d el	GRCh37 (hg19)		NC_000016.9	Chr16	74,417,403	74,417,560	74,434,660	74,434,813
essv6366591	Submitted genomic		NC_000016.9:g.(744 17403_74417560)_(7 4434660_74434813)d el	GRCh37 (hg19)		NC_000016.9	Chr16	74,417,403	74,417,560	74,434,660	74,434,813
essv6383975	Submitted genomic		NC_000016.9:g.(744 17403_74417560)_(7 4434660_74434813)d el	GRCh37 (hg19)		NC_000016.9	Chr16	74,417,403	74,417,560	74,434,660	74,434,813

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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