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dbVar

Database of genomic structural variation

esv3981283

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:10,800

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: 262 SVs from 57 studies. See in: genome view

Remapped(Score: Perfect):160,635,769-160,646,568

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
esv3981283	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	160,635,769	160,646,568
esv3981283	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	161,056,801	161,067,600

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Copy number	Other Calls in this Sample and Study
essv25904438	deletion	DGMQ-31425	SNP array, Sequencing	Other, Probe signal intensity, Read depth	1	1,581
essv25923612	deletion	DGMQ-31036	SNP array, Sequencing	Other, Probe signal intensity, Read depth	1	1,631

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
essv25904438	Remapped	Perfect	NC_000006.12:g.(16 0635769_?)_(?_1606 46568)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	160,635,769	160,646,568
essv25923612	Remapped	Perfect	NC_000006.12:g.(16 0636219_?)_(?_1606 41168)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	160,636,219	160,641,168
essv25904438	Submitted genomic		NC_000006.11:g.(16 1056801_?)_(?_1610 67600)del	GRCh37 (hg19)		NC_000006.11	Chr6	161,056,801	161,067,600
essv25923612	Submitted genomic		NC_000006.11:g.(16 1057251_?)_(?_1610 62200)del	GRCh37 (hg19)		NC_000006.11	Chr6	161,057,251	161,062,200

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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