A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760993



Internal ID10377300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:52764971..52808145hg38UCSC Ensembl
Innerchr6:52629769..52672943hg19UCSC Ensembl
Innerchr6:52737728..52780902hg18UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg3843175
hg1943175
hg1843175
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7013661, essv7013660
SamplesRW_0523, RW_0275
Known GenesGSTA1
MethodMerging
AnalysisTwo different algorithms (PennCNV and Birdseye) were applied to detect CNVs. Only congruent CNV events regarding direction of effect that were detected by both algorithms were merged using the outer borders of the event in a first step. In a second step only CNVs that were detected in at least two individuals were merged into a CNVR.
PlatformMerging
Comments
ReferenceVogler_et_al_2010
Pubmed ID21179565
Accession Number(s)esv2760993
Frequency
Sample Size1109
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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