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dbVar

Database of genomic structural variation

esv3586532

Organism: Homo sapiens

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

Variant Calls:3
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: 132 SVs from 24 studies. See in: genome view

Remapped(Score: Perfect):77,980,556-77,980,556

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3586532	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	77,980,556	77,980,556
esv3586532	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	78,446,240	78,446,240

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv9980990	sva insertion	SAMN00001639	Sequencing	Read depth and paired-end mapping	Heterozygous	2,876
essv9980991	sva insertion	SAMN00001037	Sequencing	Read depth and paired-end mapping	Heterozygous	2,923
essv9980992	sva insertion	SAMN00001065	Sequencing	Read depth and paired-end mapping	Heterozygous	2,781

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv9980990	Remapped	Perfect	NC_000001.11:g.779 80556_77980557ins?	GRCh38.p12	First Pass	NC_000001.11	Chr1	77,980,556	77,980,556
essv9980991	Remapped	Perfect	NC_000001.11:g.779 80556_77980557ins?	GRCh38.p12	First Pass	NC_000001.11	Chr1	77,980,556	77,980,556
essv9980992	Remapped	Perfect	NC_000001.11:g.779 80556_77980557ins?	GRCh38.p12	First Pass	NC_000001.11	Chr1	77,980,556	77,980,556
essv9980990	Submitted genomic		NC_000001.10:g.784 46240_78446241ins?	GRCh37 (hg19)		NC_000001.10	Chr1	78,446,240	78,446,240
essv9980991	Submitted genomic		NC_000001.10:g.784 46240_78446241ins?	GRCh37 (hg19)		NC_000001.10	Chr1	78,446,240	78,446,240
essv9980992	Submitted genomic		NC_000001.10:g.784 46240_78446241ins?	GRCh37 (hg19)		NC_000001.10	Chr1	78,446,240	78,446,240

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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