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dbVar

Database of genomic structural variation

esv3634943

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:111,091

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: 378 SVs from 57 studies. See in: genome view

Remapped(Score: Perfect):74,426,684-74,537,774

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
esv3634943	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	74,426,684	74,537,774
esv3634943	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000014.8	Chr14	74,893,387	75,004,477

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
essv15061246	duplication	SAMN00249818	Sequencing	Read depth and paired-end mapping	Heterozygous	2,604

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
essv15061246	Remapped	Perfect	NC_000014.9:g.7442 6684_74537774dup	GRCh38.p12	First Pass	NC_000014.9	Chr14	74,426,684	74,537,774
essv15061246	Submitted genomic		NC_000014.8:g.7489 3387_75004477dup	GRCh37 (hg19)		NC_000014.8	Chr14	74,893,387	75,004,477

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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