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dbVar

Database of genomic structural variation

esv3690825

Organism: Homo sapiens

Study:estd220 (Pettigrew et al. 2015)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:GRCh37 (hg19)

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:140,657

Publication(s):Pettigrew 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: 468 SVs from 71 studies. See in: genome view

Remapped(Score: Perfect):22,372,942-22,513,598

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
esv3690825	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000012.12	Chr12	22,372,942	22,372,942	22,494,922	22,513,598
esv3690825	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000012.11	Chr12	22,525,876	22,525,876	22,647,856	22,666,532

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv16505132	duplication	FR-07	SNP array	SNP genotyping analysis	34

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
essv16505132	Remapped	Perfect	NC_000012.12:g.(22 372942_22372942)_( 22494922_22513598) dup	GRCh38.p12	First Pass	NC_000012.12	Chr12	22,372,942	22,372,942	22,494,922	22,513,598
essv16505132	Submitted genomic		NC_000012.11:g.(22 525876_22525876)_( 22647856_22666532) dup121980	GRCh37 (hg19)		NC_000012.11	Chr12	22,525,876	22,525,876	22,647,856	22,666,532

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant

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