A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762893



Internal ID10030243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:5363199..5367890hg38UCSC Ensembl
Innerchr11:5384429..5389120hg19UCSC Ensembl
Innerchr11:5341005..5345696hg18UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg384692
hg194692
hg184692
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7019245
SamplesRW_0099
Known GenesOR51B5
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)esv2762893
Frequency
Sample Size1109
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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