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dbVar

Database of genomic structural variation

esv3647912

Organism: Homo sapiens

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

Variant Calls:7
Validation:Not tested
Clinical Assertions: No
Region Size:1

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: 202 SVs from 18 studies. See in: genome view

Remapped(Score: Perfect):44,923,079-44,923,079

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3647912	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000022.11	Chr22	44,923,079	44,923,079
esv3647912	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000022.10	Chr22	45,318,959	45,318,959

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv16439203	sva insertion	SAMN00262993	Sequencing	Read depth and paired-end mapping	Heterozygous	3,311
essv16439204	sva insertion	SAMN01036822	Sequencing	Read depth and paired-end mapping	Heterozygous	3,231
essv16439205	sva insertion	SAMN01090757	Sequencing	Read depth and paired-end mapping	Heterozygous	3,011
essv16439206	sva insertion	SAMN00001117	Sequencing	Read depth and paired-end mapping	Heterozygous	4,071
essv16439207	sva insertion	SAMN00001134	Sequencing	Read depth and paired-end mapping	Heterozygous	2,950
essv16439208	sva insertion	SAMN00007812	Sequencing	Read depth and paired-end mapping	Heterozygous	3,129
essv16439209	sva insertion	SAMN00007818	Sequencing	Read depth and paired-end mapping	Heterozygous	2,857

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv16439203	Remapped	Perfect	NC_000022.11:g.449 23079_44923080ins?	GRCh38.p12	First Pass	NC_000022.11	Chr22	44,923,079	44,923,079
essv16439204	Remapped	Perfect	NC_000022.11:g.449 23079_44923080ins?	GRCh38.p12	First Pass	NC_000022.11	Chr22	44,923,079	44,923,079
essv16439205	Remapped	Perfect	NC_000022.11:g.449 23079_44923080ins?	GRCh38.p12	First Pass	NC_000022.11	Chr22	44,923,079	44,923,079
essv16439206	Remapped	Perfect	NC_000022.11:g.449 23079_44923080ins?	GRCh38.p12	First Pass	NC_000022.11	Chr22	44,923,079	44,923,079
essv16439207	Remapped	Perfect	NC_000022.11:g.449 23079_44923080ins?	GRCh38.p12	First Pass	NC_000022.11	Chr22	44,923,079	44,923,079
essv16439208	Remapped	Perfect	NC_000022.11:g.449 23079_44923080ins?	GRCh38.p12	First Pass	NC_000022.11	Chr22	44,923,079	44,923,079
essv16439209	Remapped	Perfect	NC_000022.11:g.449 23079_44923080ins?	GRCh38.p12	First Pass	NC_000022.11	Chr22	44,923,079	44,923,079
essv16439203	Submitted genomic		NC_000022.10:g.453 18959_45318960ins?	GRCh37 (hg19)		NC_000022.10	Chr22	45,318,959	45,318,959
essv16439204	Submitted genomic		NC_000022.10:g.453 18959_45318960ins?	GRCh37 (hg19)		NC_000022.10	Chr22	45,318,959	45,318,959
essv16439205	Submitted genomic		NC_000022.10:g.453 18959_45318960ins?	GRCh37 (hg19)		NC_000022.10	Chr22	45,318,959	45,318,959
essv16439206	Submitted genomic		NC_000022.10:g.453 18959_45318960ins?	GRCh37 (hg19)		NC_000022.10	Chr22	45,318,959	45,318,959
essv16439207	Submitted genomic		NC_000022.10:g.453 18959_45318960ins?	GRCh37 (hg19)		NC_000022.10	Chr22	45,318,959	45,318,959
essv16439208	Submitted genomic		NC_000022.10:g.453 18959_45318960ins?	GRCh37 (hg19)		NC_000022.10	Chr22	45,318,959	45,318,959
essv16439209	Submitted genomic		NC_000022.10:g.453 18959_45318960ins?	GRCh37 (hg19)		NC_000022.10	Chr22	45,318,959	45,318,959

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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