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dbVar

Database of genomic structural variation

esv2732302

Organism: Homo sapiens

Study:estd201 (Wong et al. 2013)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37 (hg19)

Variant Calls:2
Validation:Not tested
Clinical Assertions: No
Region Size:49,456

Publication(s):Wong et al. 2013

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: 247 SVs from 41 studies. See in: genome view

Remapped(Score: Perfect):74,032,042-74,081,497

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
esv2732302	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000006.12	Chr6	74,032,042	74,081,497
esv2732302	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000006.11	Chr6	74,741,758	74,791,213

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
essv6872811	deletion	SSM091	Sequencing	Paired-end mapping	2,687
essv6811360	deletion	SSM076	Sequencing	Paired-end mapping	2,535

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
essv6872811	Remapped	Perfect	NC_000006.12:g.(74 032042_?)_(?_74081 490)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	74,032,042	74,081,490
essv6811360	Remapped	Perfect	NC_000006.12:g.(74 032051_?)_(?_74081 497)del	GRCh38.p12	First Pass	NC_000006.12	Chr6	74,032,051	74,081,497
essv6872811	Submitted genomic		NC_000006.11:g.(74 741758_?)_(?_74791 206)del	GRCh37 (hg19)		NC_000006.11	Chr6	74,741,758	74,791,206
essv6811360	Submitted genomic		NC_000006.11:g.(74 741767_?)_(?_74791 213)del	GRCh37 (hg19)		NC_000006.11	Chr6	74,741,767	74,791,213

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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