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dbVar

Database of genomic structural variation

esv3592179

Organism: Homo sapiens

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

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:229,802

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: 493 SVs from 56 studies. See in: genome view

Remapped(Score: Perfect):120,483,149-120,712,950

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3592179	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	120,483,149	120,712,950
esv3592179	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	121,240,725	121,470,526

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv10641132	duplication	SAMN01096723	Sequencing	Read depth and paired-end mapping	Heterozygous	2,577

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv10641132	Remapped	Perfect	NC_000002.12:g.120 483149_120712950du p	GRCh38.p12	First Pass	NC_000002.12	Chr2	120,483,149	120,712,950
essv10641132	Submitted genomic		NC_000002.11:g.121 240725_121470526du p	GRCh37 (hg19)		NC_000002.11	Chr2	121,240,725	121,470,526

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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