Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

esv3646723

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

Remapped(Score: Perfect):25,895,878-25,895,878

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3646723	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000021.9	Chr21	25,895,878	25,895,878
esv3646723	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000021.8	Chr21	27,268,190	27,268,190

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv16297413	line1 insertion	SAMN00249940	Sequencing	Read depth and paired-end mapping	Heterozygous	2,767

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv16297413	Remapped	Perfect	NC_000021.9:g.2589 5878_25895879ins?	GRCh38.p12	First Pass	NC_000021.9	Chr21	25,895,878	25,895,878
essv16297413	Submitted genomic		NC_000021.8:g.2726 8190_27268191ins?	GRCh37 (hg19)		NC_000021.8	Chr21	27,268,190	27,268,190

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.

You are here: NCBI