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dbVar

Database of genomic structural variation

esv3603183

Organism: Homo sapiens

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

Variant Calls:4
Validation:Not tested
Clinical Assertions: No
Region Size:12

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: 234 SVs from 30 studies. See in: genome view

Remapped(Score: Perfect):171,985,431-171,985,442

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3603183	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	171,985,431 (-0, +12)	171,985,442 (-12, +0)
esv3603183	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	172,906,582 (-0, +12)	172,906,593 (-12, +0)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv11699728	insertion	SAMN00006344	Sequencing	Read depth and paired-end mapping	Heterozygous	2,768
essv11699729	insertion	SAMN01036843	Sequencing	Read depth and paired-end mapping	Heterozygous	2,809
essv11699730	insertion	SAMN00009163	Sequencing	Read depth and paired-end mapping	Heterozygous	2,929
essv11699731	insertion	SAMN00001230	Sequencing	Read depth and paired-end mapping	Heterozygous	2,901

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv11699728	Remapped	Perfect	NC_000004.12:g.(17 1985431_171985443) _(171985430_171985 442)ins?	GRCh38.p12	First Pass	NC_000004.12	Chr4	171,985,431 (-0, +12)	171,985,442 (-12, +0)
essv11699729	Remapped	Perfect	NC_000004.12:g.(17 1985431_171985443) _(171985430_171985 442)ins?	GRCh38.p12	First Pass	NC_000004.12	Chr4	171,985,431 (-0, +12)	171,985,442 (-12, +0)
essv11699730	Remapped	Perfect	NC_000004.12:g.(17 1985431_171985443) _(171985430_171985 442)ins?	GRCh38.p12	First Pass	NC_000004.12	Chr4	171,985,431 (-0, +12)	171,985,442 (-12, +0)
essv11699731	Remapped	Perfect	NC_000004.12:g.(17 1985431_171985443) _(171985430_171985 442)ins?	GRCh38.p12	First Pass	NC_000004.12	Chr4	171,985,431 (-0, +12)	171,985,442 (-12, +0)
essv11699728	Submitted genomic		NC_000004.11:g.(17 2906582_172906594) _(172906581_172906 593)ins?	GRCh37 (hg19)		NC_000004.11	Chr4	172,906,582 (-0, +12)	172,906,593 (-12, +0)
essv11699729	Submitted genomic		NC_000004.11:g.(17 2906582_172906594) _(172906581_172906 593)ins?	GRCh37 (hg19)		NC_000004.11	Chr4	172,906,582 (-0, +12)	172,906,593 (-12, +0)
essv11699730	Submitted genomic		NC_000004.11:g.(17 2906582_172906594) _(172906581_172906 593)ins?	GRCh37 (hg19)		NC_000004.11	Chr4	172,906,582 (-0, +12)	172,906,593 (-12, +0)
essv11699731	Submitted genomic		NC_000004.11:g.(17 2906582_172906594) _(172906581_172906 593)ins?	GRCh37 (hg19)		NC_000004.11	Chr4	172,906,582 (-0, +12)	172,906,593 (-12, +0)

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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