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dbVar

Database of genomic structural variation

esv3985860

Organism: Homo sapiens

Study:estd229 (Fakhro et al. 2015)
Variant Type:copy number variation
Method Type:SNP array, Sequencing
Submitted on:GRCh37 (hg19)

Variant Calls:2
Validation:Not tested
Clinical Assertions: No
Region Size:10,350

Publication(s):Fakhro 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: 219 SVs from 44 studies. See in: genome view

Remapped(Score: Perfect):47,238,448-47,248,797

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
esv3985860	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	47,238,448	47,248,797
esv3985860	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000014.8	Chr14	47,707,651	47,718,000

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Copy number	Other Calls in this Sample and Study
essv25971490	deletion	DGMQ-32118	SNP array, Sequencing	Other, Probe signal intensity, Read depth	1	1,534
essv26000915	deletion	DGMQ-31125	SNP array, Sequencing	Other, Probe signal intensity, Read depth	1	1,569

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
essv25971490	Remapped	Perfect	NC_000014.9:g.(472 38448_?)_(?_472487 97)del	GRCh38.p12	First Pass	NC_000014.9	Chr14	47,238,448	47,248,797
essv26000915	Remapped	Perfect	NC_000014.9:g.(472 38898_?)_(?_472487 97)del	GRCh38.p12	First Pass	NC_000014.9	Chr14	47,238,898	47,248,797
essv25971490	Submitted genomic		NC_000014.8:g.(477 07651_?)_(?_477180 00)del	GRCh37 (hg19)		NC_000014.8	Chr14	47,707,651	47,718,000
essv26000915	Submitted genomic		NC_000014.8:g.(477 08101_?)_(?_477180 00)del	GRCh37 (hg19)		NC_000014.8	Chr14	47,708,101	47,718,000

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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