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dbVar

Database of genomic structural variation

esv3585624

Organism: Homo sapiens

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

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:381

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: 153 SVs from 32 studies. See in: genome view

Remapped(Score: Perfect):30,252,956-30,253,336

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3585624	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	30,252,956 (-0, +381)	30,253,336 (-381, +0)
esv3585624	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	30,725,803 (-0, +381)	30,726,183 (-381, +0)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv9895228	insertion	SAMN01761598	Sequencing	Read depth and paired-end mapping	Heterozygous	2,831

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv9895228	Remapped	Perfect	NC_000001.11:g.(30 252956_30253337)_( 30252955_30253336) ins?	GRCh38.p12	First Pass	NC_000001.11	Chr1	30,252,956 (-0, +381)	30,253,336 (-381, +0)
essv9895228	Submitted genomic		NC_000001.10:g.(30 725803_30726184)_( 30725802_30726183) ins?	GRCh37 (hg19)		NC_000001.10	Chr1	30,725,803 (-0, +381)	30,726,183 (-381, +0)

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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