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dbVar

Database of genomic structural variation

esv3647153

Organism: Homo sapiens

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

Variant Calls:1
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: 335 SVs from 29 studies. See in: genome view

Remapped(Score: Perfect):45,887,469-45,887,469

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3647153	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000021.9	Chr21	45,887,469	45,887,469
esv3647153	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000021.8	Chr21	47,307,383	47,307,383

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv16341186	line1 insertion	SAMN00001601	Sequencing	Read depth and paired-end mapping	Heterozygous	2,618

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv16341186	Remapped	Perfect	NC_000021.9:g.4588 7469_45887470ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	45,887,469	45,887,469
essv16341186	Submitted genomic		NC_000021.8:g.4730 7383_47307384ins?	GRCh37 (hg19)		NC_000021.8	Chr21	47,307,383	47,307,383

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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