A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761665



Internal ID10374463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:37345423..37468709hg38UCSC Ensembl
Innerchr11:37366973..37490259hg19UCSC Ensembl
Innerchr11:37323549..37446835hg18UCSC Ensembl
Cytoband11p12
Allele length
AssemblyAllele length
hg38123287
hg19123287
hg18123287
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6995848
SamplesSW_0606
Known Genes
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)esv2761665
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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