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dbVar

Database of genomic structural variation

esv3860988

Organism: Homo sapiens

Study:estd219 (1000 Genomes Consortium Phase 3 Integrated SV)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:8
Validation:Not tested
Clinical Assertions: No
Region Size:21,823

Publication(s):1000 Genomes Consortium Phase 3 Integrated SV

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: 821 SVs from 61 studies. See in: genome view

Remapped(Score: Perfect):66,538,856-66,560,721

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3860988	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000010.11	Chr10	66,538,884 (-28, +0)	66,560,706 (-0, +15)
esv3860988	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000010.10	Chr10	68,298,642 (-28, +0)	68,320,464 (-0, +15)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv22026710	deletion	HG00281	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,258
essv22026711	deletion	HG00557	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,388
essv22026712	deletion	HG01325	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,518
essv22026713	deletion	HG01865	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,541
essv22026714	deletion	HG02304	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,688
essv22026715	deletion	HG03169	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,796
essv22026716	deletion	NA18616	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,280
essv22026717	deletion	NA18625	Sequencing	Paired-end mapping, Read depth, Read depth and paired-end mapping, Split read mapping	Heterozygous	3,462

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv22026710	Remapped	Perfect	NC_000010.11:g.(66 538856_66538884)_( 66560706_66560721) del	GRCh38.p12	First Pass	NC_000010.11	Chr10	66,538,884 (-28, +0)	66,560,706 (-0, +15)
essv22026711	Remapped	Perfect	NC_000010.11:g.(66 538856_66538884)_( 66560706_66560721) del	GRCh38.p12	First Pass	NC_000010.11	Chr10	66,538,884 (-28, +0)	66,560,706 (-0, +15)
essv22026712	Remapped	Perfect	NC_000010.11:g.(66 538856_66538884)_( 66560706_66560721) del	GRCh38.p12	First Pass	NC_000010.11	Chr10	66,538,884 (-28, +0)	66,560,706 (-0, +15)
essv22026713	Remapped	Perfect	NC_000010.11:g.(66 538856_66538884)_( 66560706_66560721) del	GRCh38.p12	First Pass	NC_000010.11	Chr10	66,538,884 (-28, +0)	66,560,706 (-0, +15)
essv22026714	Remapped	Perfect	NC_000010.11:g.(66 538856_66538884)_( 66560706_66560721) del	GRCh38.p12	First Pass	NC_000010.11	Chr10	66,538,884 (-28, +0)	66,560,706 (-0, +15)
essv22026715	Remapped	Perfect	NC_000010.11:g.(66 538856_66538884)_( 66560706_66560721) del	GRCh38.p12	First Pass	NC_000010.11	Chr10	66,538,884 (-28, +0)	66,560,706 (-0, +15)
essv22026716	Remapped	Perfect	NC_000010.11:g.(66 538856_66538884)_( 66560706_66560721) del	GRCh38.p12	First Pass	NC_000010.11	Chr10	66,538,884 (-28, +0)	66,560,706 (-0, +15)
essv22026717	Remapped	Perfect	NC_000010.11:g.(66 538856_66538884)_( 66560706_66560721) del	GRCh38.p12	First Pass	NC_000010.11	Chr10	66,538,884 (-28, +0)	66,560,706 (-0, +15)
essv22026710	Submitted genomic		NC_000010.10:g.(68 298614_68298642)_( 68320464_68320479) del	GRCh37 (hg19)		NC_000010.10	Chr10	68,298,642 (-28, +0)	68,320,464 (-0, +15)
essv22026711	Submitted genomic		NC_000010.10:g.(68 298614_68298642)_( 68320464_68320479) del	GRCh37 (hg19)		NC_000010.10	Chr10	68,298,642 (-28, +0)	68,320,464 (-0, +15)
essv22026712	Submitted genomic		NC_000010.10:g.(68 298614_68298642)_( 68320464_68320479) del	GRCh37 (hg19)		NC_000010.10	Chr10	68,298,642 (-28, +0)	68,320,464 (-0, +15)
essv22026713	Submitted genomic		NC_000010.10:g.(68 298614_68298642)_( 68320464_68320479) del	GRCh37 (hg19)		NC_000010.10	Chr10	68,298,642 (-28, +0)	68,320,464 (-0, +15)
essv22026714	Submitted genomic		NC_000010.10:g.(68 298614_68298642)_( 68320464_68320479) del	GRCh37 (hg19)		NC_000010.10	Chr10	68,298,642 (-28, +0)	68,320,464 (-0, +15)
essv22026715	Submitted genomic		NC_000010.10:g.(68 298614_68298642)_( 68320464_68320479) del	GRCh37 (hg19)		NC_000010.10	Chr10	68,298,642 (-28, +0)	68,320,464 (-0, +15)
essv22026716	Submitted genomic		NC_000010.10:g.(68 298614_68298642)_( 68320464_68320479) del	GRCh37 (hg19)		NC_000010.10	Chr10	68,298,642 (-28, +0)	68,320,464 (-0, +15)
essv22026717	Submitted genomic		NC_000010.10:g.(68 298614_68298642)_( 68320464_68320479) del	GRCh37 (hg19)		NC_000010.10	Chr10	68,298,642 (-28, +0)	68,320,464 (-0, +15)

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype and/or allele frequency data can be found on dbVar's FTP site.

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