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dbVar

Database of genomic structural variation

esv3689715

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:125,706

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: 559 SVs from 55 studies. See in: genome view

Remapped(Score: Perfect):34,068,367-34,194,072

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
esv3689715	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	34,068,367	34,068,367	34,194,071	34,194,072
esv3689715	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	34,069,989	34,069,989	34,195,693	34,195,694

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv16504022	deletion	LI-14	SNP array	SNP genotyping analysis	32

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
essv16504022	Remapped	Perfect	NC_000004.12:g.(34 068367_34068367)_( 34194071_34194072) del	GRCh38.p12	First Pass	NC_000004.12	Chr4	34,068,367	34,068,367	34,194,071	34,194,072
essv16504022	Submitted genomic		NC_000004.11:g.(34 069989_34069989)_( 34195693_34195694) del125704	GRCh37 (hg19)		NC_000004.11	Chr4	34,069,989	34,069,989	34,195,693	34,195,694

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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