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dbVar

Database of genomic structural variation

esv3692755

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:183,973

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: 799 SVs from 74 studies. See in: genome view

Remapped(Score: Perfect):40,265,513-40,449,485

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
esv3692755	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	40,265,513	40,265,513	40,449,484	40,449,485
esv3692755	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000007.13	Chr7	40,305,112	40,305,112	40,489,083	40,489,084

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv16507027	deletion	FR-46	SNP array	SNP genotyping analysis	30

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
essv16507027	Remapped	Perfect	NC_000007.14:g.(40 265513_40265513)_( 40449484_40449485) del	GRCh38.p12	First Pass	NC_000007.14	Chr7	40,265,513	40,265,513	40,449,484	40,449,485
essv16507027	Submitted genomic		NC_000007.13:g.(40 305112_40305112)_( 40489083_40489084) del183971	GRCh37 (hg19)		NC_000007.13	Chr7	40,305,112	40,305,112	40,489,083	40,489,084

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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