A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2763025



Internal ID10377736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:54430313..54449198hg38UCSC Ensembl
Innerchr13:55004448..55023333hg19UCSC Ensembl
Innerchr13:53902449..53921334hg18UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg3818886
hg1918886
hg1818886
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7021421
SamplesRW_0341
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)esv2763025
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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