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dbVar

Database of genomic structural variation

esv3646801

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: 242 SVs from 25 studies. See in: genome view

Remapped(Score: Perfect):29,538,805-29,538,805

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3646801	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000021.9	Chr21	29,538,805	29,538,805
esv3646801	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000021.8	Chr21	30,911,126	30,911,126

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv16309587	line1 insertion	SAMN00779961	Sequencing	Read depth and paired-end mapping	Heterozygous	3,224
essv16309588	line1 insertion	SAMN01036721	Sequencing	Read depth and paired-end mapping	Heterozygous	3,162
essv16309589	line1 insertion	SAMN01761272	Sequencing	Read depth and paired-end mapping	Heterozygous	3,508
essv16309590	line1 insertion	SAMN01036754	Sequencing	Read depth and paired-end mapping	Heterozygous	3,219
essv16309591	line1 insertion	SAMN01036784	Sequencing	Read depth and paired-end mapping	Heterozygous	3,195
essv16309592	line1 insertion	SAMN01036787	Sequencing	Read depth and paired-end mapping	Heterozygous	3,141
essv16309593	line1 insertion	SAMN01761264	Sequencing	Read depth and paired-end mapping	Heterozygous	2,514

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv16309587	Remapped	Perfect	NC_000021.9:g.2953 8805_29538806ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	29,538,805	29,538,805
essv16309588	Remapped	Perfect	NC_000021.9:g.2953 8805_29538806ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	29,538,805	29,538,805
essv16309589	Remapped	Perfect	NC_000021.9:g.2953 8805_29538806ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	29,538,805	29,538,805
essv16309590	Remapped	Perfect	NC_000021.9:g.2953 8805_29538806ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	29,538,805	29,538,805
essv16309591	Remapped	Perfect	NC_000021.9:g.2953 8805_29538806ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	29,538,805	29,538,805
essv16309592	Remapped	Perfect	NC_000021.9:g.2953 8805_29538806ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	29,538,805	29,538,805
essv16309593	Remapped	Perfect	NC_000021.9:g.2953 8805_29538806ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	29,538,805	29,538,805
essv16309587	Submitted genomic		NC_000021.8:g.3091 1126_30911127ins?	GRCh37 (hg19)		NC_000021.8	Chr21	30,911,126	30,911,126
essv16309588	Submitted genomic		NC_000021.8:g.3091 1126_30911127ins?	GRCh37 (hg19)		NC_000021.8	Chr21	30,911,126	30,911,126
essv16309589	Submitted genomic		NC_000021.8:g.3091 1126_30911127ins?	GRCh37 (hg19)		NC_000021.8	Chr21	30,911,126	30,911,126
essv16309590	Submitted genomic		NC_000021.8:g.3091 1126_30911127ins?	GRCh37 (hg19)		NC_000021.8	Chr21	30,911,126	30,911,126
essv16309591	Submitted genomic		NC_000021.8:g.3091 1126_30911127ins?	GRCh37 (hg19)		NC_000021.8	Chr21	30,911,126	30,911,126
essv16309592	Submitted genomic		NC_000021.8:g.3091 1126_30911127ins?	GRCh37 (hg19)		NC_000021.8	Chr21	30,911,126	30,911,126
essv16309593	Submitted genomic		NC_000021.8:g.3091 1126_30911127ins?	GRCh37 (hg19)		NC_000021.8	Chr21	30,911,126	30,911,126

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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