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dbVar

Database of genomic structural variation

esv3586657

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: 135 SVs from 20 studies. See in: genome view

Remapped(Score: Perfect):83,964,157-83,964,157

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3586657	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	83,964,157	83,964,157
esv3586657	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	84,429,840	84,429,840

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv9996996	line1 insertion	SAMN00001243	Sequencing	Read depth and paired-end mapping	Heterozygous	2,818

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv9996996	Remapped	Perfect	NC_000001.11:g.839 64157_83964158ins?	GRCh38.p12	First Pass	NC_000001.11	Chr1	83,964,157	83,964,157
essv9996996	Submitted genomic		NC_000001.10:g.844 29840_84429841ins?	GRCh37 (hg19)		NC_000001.10	Chr1	84,429,840	84,429,840

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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