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dbVar

Database of genomic structural variation

esv3633585

Organism: Homo sapiens

Study:estd214 (1000 Genomes Consortium Phase 3)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37

Variant Calls:6
Validation:Not tested
Clinical Assertions: No
Region Size:21,357

Publication(s):1000 Genomes Project Consortium et al. 2015

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: 622 SVs from 72 studies. See in: genome view

Remapped(Score: Perfect):112,764,920-112,787,276

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3633585	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000013.11	Chr13	112,765,420 (-500, +0)	112,786,776 (-0, +500)
esv3633585	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000013.10	Chr13	113,419,734 (-500, +0)	113,441,090 (-0, +500)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv14901199	deletion	SAMN00016974	Sequencing	Read depth and paired-end mapping	Heterozygous	2,666
essv14901200	deletion	SAMN00006376	Sequencing	Read depth and paired-end mapping	Heterozygous	2,448
essv14901201	deletion	SAMN00006529	Sequencing	Read depth and paired-end mapping	Heterozygous	2,283
essv14901202	deletion	SAMN00006531	Sequencing	Read depth and paired-end mapping	Heterozygous	2,378
essv14901203	deletion	SAMN00000386	Sequencing	Read depth and paired-end mapping	Heterozygous	2,456
essv14901204	deletion	SAMN00007813	Sequencing	Read depth and paired-end mapping	Heterozygous	2,983

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv14901199	Remapped	Perfect	NC_000013.11:g.(11 2764920_112765420) _(112786776_112787 276)del	GRCh38.p12	First Pass	NC_000013.11	Chr13	112,765,420 (-500, +0)	112,786,776 (-0, +500)
essv14901200	Remapped	Perfect	NC_000013.11:g.(11 2764920_112765420) _(112786776_112787 276)del	GRCh38.p12	First Pass	NC_000013.11	Chr13	112,765,420 (-500, +0)	112,786,776 (-0, +500)
essv14901201	Remapped	Perfect	NC_000013.11:g.(11 2764920_112765420) _(112786776_112787 276)del	GRCh38.p12	First Pass	NC_000013.11	Chr13	112,765,420 (-500, +0)	112,786,776 (-0, +500)
essv14901202	Remapped	Perfect	NC_000013.11:g.(11 2764920_112765420) _(112786776_112787 276)del	GRCh38.p12	First Pass	NC_000013.11	Chr13	112,765,420 (-500, +0)	112,786,776 (-0, +500)
essv14901203	Remapped	Perfect	NC_000013.11:g.(11 2764920_112765420) _(112786776_112787 276)del	GRCh38.p12	First Pass	NC_000013.11	Chr13	112,765,420 (-500, +0)	112,786,776 (-0, +500)
essv14901204	Remapped	Perfect	NC_000013.11:g.(11 2764920_112765420) _(112786776_112787 276)del	GRCh38.p12	First Pass	NC_000013.11	Chr13	112,765,420 (-500, +0)	112,786,776 (-0, +500)
essv14901199	Submitted genomic		NC_000013.10:g.(11 3419234_113419734) _(113441090_113441 590)del	GRCh37 (hg19)		NC_000013.10	Chr13	113,419,734 (-500, +0)	113,441,090 (-0, +500)
essv14901200	Submitted genomic		NC_000013.10:g.(11 3419234_113419734) _(113441090_113441 590)del	GRCh37 (hg19)		NC_000013.10	Chr13	113,419,734 (-500, +0)	113,441,090 (-0, +500)
essv14901201	Submitted genomic		NC_000013.10:g.(11 3419234_113419734) _(113441090_113441 590)del	GRCh37 (hg19)		NC_000013.10	Chr13	113,419,734 (-500, +0)	113,441,090 (-0, +500)
essv14901202	Submitted genomic		NC_000013.10:g.(11 3419234_113419734) _(113441090_113441 590)del	GRCh37 (hg19)		NC_000013.10	Chr13	113,419,734 (-500, +0)	113,441,090 (-0, +500)
essv14901203	Submitted genomic		NC_000013.10:g.(11 3419234_113419734) _(113441090_113441 590)del	GRCh37 (hg19)		NC_000013.10	Chr13	113,419,734 (-500, +0)	113,441,090 (-0, +500)
essv14901204	Submitted genomic		NC_000013.10:g.(11 3419234_113419734) _(113441090_113441 590)del	GRCh37 (hg19)		NC_000013.10	Chr13	113,419,734 (-500, +0)	113,441,090 (-0, +500)

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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