A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2762524



Internal ID10375322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:63123408..63170131hg38UCSC Ensembl
Innerchr5:62419235..62465958hg19UCSC Ensembl
Innerchr5:62454991..62501714hg18UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg3846724
hg1946724
hg1846724
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7012903
SamplesRW_0204
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)esv2762524
Frequency
Sample Size1109
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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