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dbVar

Database of genomic structural variation

esv3647813

Organism: Homo sapiens

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

Variant Calls:2
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: 115 SVs from 22 studies. See in: genome view

Remapped(Score: Perfect):42,228,999-42,228,999

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3647813	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000022.11	Chr22	42,228,999	42,228,999
esv3647813	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000022.10	Chr22	42,625,005	42,625,005

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv16431109	alu insertion	SAMN00001044	Sequencing	Read depth and paired-end mapping	Heterozygous	3,190
essv16431110	alu insertion	SAMN00007806	Sequencing	Read depth and paired-end mapping	Heterozygous	3,302

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv16431109	Remapped	Perfect	NC_000022.11:g.422 28999_42229000ins?	GRCh38.p12	First Pass	NC_000022.11	Chr22	42,228,999	42,228,999
essv16431110	Remapped	Perfect	NC_000022.11:g.422 28999_42229000ins?	GRCh38.p12	First Pass	NC_000022.11	Chr22	42,228,999	42,228,999
essv16431109	Submitted genomic		NC_000022.10:g.426 25005_42625006ins?	GRCh37 (hg19)		NC_000022.10	Chr22	42,625,005	42,625,005
essv16431110	Submitted genomic		NC_000022.10:g.426 25005_42625006ins?	GRCh37 (hg19)		NC_000022.10	Chr22	42,625,005	42,625,005

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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