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dbVar

Database of genomic structural variation

esv3621328

Organism: Homo sapiens

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

Variant Calls:9
Validation:Not tested
Clinical Assertions: No
Region Size:39,563

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: 265 SVs from 50 studies. See in: genome view

Remapped(Score: Perfect):104,050,444-104,090,015

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3621328	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000009.12	Chr9	104,050,448 (-4, +5)	104,090,010 (-4, +5)
esv3621328	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000009.11	Chr9	106,812,729 (-4, +5)	106,852,291 (-4, +5)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv13591661	deletion	SAMN00630198	Sequencing	Read depth and paired-end mapping	Heterozygous	3,096
essv13591662	deletion	SAMN00779931	Sequencing	Read depth and paired-end mapping	Heterozygous	3,117
essv13591663	deletion	SAMN00779933	Sequencing	Read depth and paired-end mapping	Heterozygous	3,201
essv13591664	deletion	SAMN01090749	Sequencing	Read depth and paired-end mapping	Heterozygous	3,026
essv13591665	deletion	SAMN01090798	Sequencing	Read depth and paired-end mapping	Heterozygous	3,064
essv13591666	deletion	SAMN01761320	Sequencing	Read depth and paired-end mapping	Heterozygous	3,295
essv13591667	deletion	SAMN01090809	Sequencing	Read depth and paired-end mapping	Heterozygous	3,083
essv13591668	deletion	SAMN00001052	Sequencing	Read depth and paired-end mapping	Heterozygous	3,055
essv13591669	deletion	SAMN00001683	Sequencing	Read depth and paired-end mapping	Heterozygous	2,908

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv13591661	Remapped	Perfect	NC_000009.12:g.(10 4050444_104050453) _(104090006_104090 015)del	GRCh38.p12	First Pass	NC_000009.12	Chr9	104,050,448 (-4, +5)	104,090,010 (-4, +5)
essv13591662	Remapped	Perfect	NC_000009.12:g.(10 4050444_104050453) _(104090006_104090 015)del	GRCh38.p12	First Pass	NC_000009.12	Chr9	104,050,448 (-4, +5)	104,090,010 (-4, +5)
essv13591663	Remapped	Perfect	NC_000009.12:g.(10 4050444_104050453) _(104090006_104090 015)del	GRCh38.p12	First Pass	NC_000009.12	Chr9	104,050,448 (-4, +5)	104,090,010 (-4, +5)
essv13591664	Remapped	Perfect	NC_000009.12:g.(10 4050444_104050453) _(104090006_104090 015)del	GRCh38.p12	First Pass	NC_000009.12	Chr9	104,050,448 (-4, +5)	104,090,010 (-4, +5)
essv13591665	Remapped	Perfect	NC_000009.12:g.(10 4050444_104050453) _(104090006_104090 015)del	GRCh38.p12	First Pass	NC_000009.12	Chr9	104,050,448 (-4, +5)	104,090,010 (-4, +5)
essv13591666	Remapped	Perfect	NC_000009.12:g.(10 4050444_104050453) _(104090006_104090 015)del	GRCh38.p12	First Pass	NC_000009.12	Chr9	104,050,448 (-4, +5)	104,090,010 (-4, +5)
essv13591667	Remapped	Perfect	NC_000009.12:g.(10 4050444_104050453) _(104090006_104090 015)del	GRCh38.p12	First Pass	NC_000009.12	Chr9	104,050,448 (-4, +5)	104,090,010 (-4, +5)
essv13591668	Remapped	Perfect	NC_000009.12:g.(10 4050444_104050453) _(104090006_104090 015)del	GRCh38.p12	First Pass	NC_000009.12	Chr9	104,050,448 (-4, +5)	104,090,010 (-4, +5)
essv13591669	Remapped	Perfect	NC_000009.12:g.(10 4050444_104050453) _(104090006_104090 015)del	GRCh38.p12	First Pass	NC_000009.12	Chr9	104,050,448 (-4, +5)	104,090,010 (-4, +5)
essv13591661	Submitted genomic		NC_000009.11:g.(10 6812725_106812734) _(106852287_106852 296)del	GRCh37 (hg19)		NC_000009.11	Chr9	106,812,729 (-4, +5)	106,852,291 (-4, +5)
essv13591662	Submitted genomic		NC_000009.11:g.(10 6812725_106812734) _(106852287_106852 296)del	GRCh37 (hg19)		NC_000009.11	Chr9	106,812,729 (-4, +5)	106,852,291 (-4, +5)
essv13591663	Submitted genomic		NC_000009.11:g.(10 6812725_106812734) _(106852287_106852 296)del	GRCh37 (hg19)		NC_000009.11	Chr9	106,812,729 (-4, +5)	106,852,291 (-4, +5)
essv13591664	Submitted genomic		NC_000009.11:g.(10 6812725_106812734) _(106852287_106852 296)del	GRCh37 (hg19)		NC_000009.11	Chr9	106,812,729 (-4, +5)	106,852,291 (-4, +5)
essv13591665	Submitted genomic		NC_000009.11:g.(10 6812725_106812734) _(106852287_106852 296)del	GRCh37 (hg19)		NC_000009.11	Chr9	106,812,729 (-4, +5)	106,852,291 (-4, +5)
essv13591666	Submitted genomic		NC_000009.11:g.(10 6812725_106812734) _(106852287_106852 296)del	GRCh37 (hg19)		NC_000009.11	Chr9	106,812,729 (-4, +5)	106,852,291 (-4, +5)
essv13591667	Submitted genomic		NC_000009.11:g.(10 6812725_106812734) _(106852287_106852 296)del	GRCh37 (hg19)		NC_000009.11	Chr9	106,812,729 (-4, +5)	106,852,291 (-4, +5)
essv13591668	Submitted genomic		NC_000009.11:g.(10 6812725_106812734) _(106852287_106852 296)del	GRCh37 (hg19)		NC_000009.11	Chr9	106,812,729 (-4, +5)	106,852,291 (-4, +5)
essv13591669	Submitted genomic		NC_000009.11:g.(10 6812725_106812734) _(106852287_106852 296)del	GRCh37 (hg19)		NC_000009.11	Chr9	106,812,729 (-4, +5)	106,852,291 (-4, +5)

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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