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dbVar

Database of genomic structural variation

esv3691389

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:477,097

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: 1949 SVs from 100 studies. See in: genome view

Remapped(Score: Perfect):62,782,367-63,259,463

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
esv3691389	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	62,782,367	62,782,367	63,214,299	63,259,463
esv3691389	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	63,648,085	63,648,085	64,080,017	64,125,181

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv16505696	duplication	FR-25	SNP array	SNP genotyping analysis	33

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
essv16505696	Remapped	Perfect	NC_000004.12:g.(62 782367_62782367)_( 63214299_63259463) dup	GRCh38.p12	First Pass	NC_000004.12	Chr4	62,782,367	62,782,367	63,214,299	63,259,463
essv16505696	Submitted genomic		NC_000004.11:g.(63 648085_63648085)_( 64080017_64125181) dup477096	GRCh37 (hg19)		NC_000004.11	Chr4	63,648,085	63,648,085	64,080,017	64,125,181

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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