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dbVar

Database of genomic structural variation

esv3981602

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:11,700

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: 443 SVs from 77 studies. See in: genome view

Remapped(Score: Perfect):52,993,085-53,004,784

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
esv3981602	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	52,993,085	53,004,784
esv3981602	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	53,027,101	53,038,800

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Copy number	Other Calls in this Sample and Study
essv25899550	deletion	DGMQ-32145	SNP array, Sequencing	Other, Probe signal intensity, Read depth	1	1,532
essv26027035	deletion	DGMQ-31582	SNP array, Sequencing	Other, Probe signal intensity, Read depth	1	1,592

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
essv25899550	Remapped	Perfect	NC_000003.12:g.(52 993085_?)_(?_53004 784)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	52,993,085	53,004,784
essv26027035	Remapped	Perfect	NC_000003.12:g.(52 993085_?)_(?_53004 784)del	GRCh38.p12	First Pass	NC_000003.12	Chr3	52,993,085	53,004,784
essv25899550	Submitted genomic		NC_000003.11:g.(53 027101_?)_(?_53038 800)del	GRCh37 (hg19)		NC_000003.11	Chr3	53,027,101	53,038,800
essv26027035	Submitted genomic		NC_000003.11:g.(53 027101_?)_(?_53038 800)del	GRCh37 (hg19)		NC_000003.11	Chr3	53,027,101	53,038,800

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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