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dbVar

Database of genomic structural variation

esv3629891

Organism: Homo sapiens

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

Variant Calls:5
Validation:Not tested
Clinical Assertions: No
Region Size:5

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: 147 SVs from 27 studies. See in: genome view

Remapped(Score: Perfect):70,403,588-70,403,592

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3629891	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	70,403,588 (-0, +5)	70,403,592 (-5, +0)
esv3629891	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000012.11	Chr12	70,797,368 (-0, +5)	70,797,372 (-5, +0)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv14523216	insertion	SAMN00630256	Sequencing	Read depth and paired-end mapping	Heterozygous	2,874
essv14523217	insertion	SAMN00630241	Sequencing	Read depth and paired-end mapping	Heterozygous	2,559
essv14523218	insertion	SAMN00000427	Sequencing	Read depth and paired-end mapping	Heterozygous	2,673
essv14523219	insertion	SAMN00000926	Sequencing	Read depth and paired-end mapping	Heterozygous	2,701
essv14523220	insertion	SAMN00001163	Sequencing	Read depth and paired-end mapping	Heterozygous	2,750

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv14523216	Remapped	Perfect	NC_000012.12:g.(70 403588_70403593)_( 70403587_70403592) ins?	GRCh38.p12	First Pass	NC_000012.12	Chr12	70,403,588 (-0, +5)	70,403,592 (-5, +0)
essv14523217	Remapped	Perfect	NC_000012.12:g.(70 403588_70403593)_( 70403587_70403592) ins?	GRCh38.p12	First Pass	NC_000012.12	Chr12	70,403,588 (-0, +5)	70,403,592 (-5, +0)
essv14523218	Remapped	Perfect	NC_000012.12:g.(70 403588_70403593)_( 70403587_70403592) ins?	GRCh38.p12	First Pass	NC_000012.12	Chr12	70,403,588 (-0, +5)	70,403,592 (-5, +0)
essv14523219	Remapped	Perfect	NC_000012.12:g.(70 403588_70403593)_( 70403587_70403592) ins?	GRCh38.p12	First Pass	NC_000012.12	Chr12	70,403,588 (-0, +5)	70,403,592 (-5, +0)
essv14523220	Remapped	Perfect	NC_000012.12:g.(70 403588_70403593)_( 70403587_70403592) ins?	GRCh38.p12	First Pass	NC_000012.12	Chr12	70,403,588 (-0, +5)	70,403,592 (-5, +0)
essv14523216	Submitted genomic		NC_000012.11:g.(70 797368_70797373)_( 70797367_70797372) ins?	GRCh37 (hg19)		NC_000012.11	Chr12	70,797,368 (-0, +5)	70,797,372 (-5, +0)
essv14523217	Submitted genomic		NC_000012.11:g.(70 797368_70797373)_( 70797367_70797372) ins?	GRCh37 (hg19)		NC_000012.11	Chr12	70,797,368 (-0, +5)	70,797,372 (-5, +0)
essv14523218	Submitted genomic		NC_000012.11:g.(70 797368_70797373)_( 70797367_70797372) ins?	GRCh37 (hg19)		NC_000012.11	Chr12	70,797,368 (-0, +5)	70,797,372 (-5, +0)
essv14523219	Submitted genomic		NC_000012.11:g.(70 797368_70797373)_( 70797367_70797372) ins?	GRCh37 (hg19)		NC_000012.11	Chr12	70,797,368 (-0, +5)	70,797,372 (-5, +0)
essv14523220	Submitted genomic		NC_000012.11:g.(70 797368_70797373)_( 70797367_70797372) ins?	GRCh37 (hg19)		NC_000012.11	Chr12	70,797,368 (-0, +5)	70,797,372 (-5, +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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