A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3581591



Internal ID18709789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:26184852..26191641hg38UCSC Ensembl
Innerchr15:26429999..26436788hg19UCSC Ensembl
Cytoband15q12
Allele length
AssemblyAllele length
hg386790
hg196790
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9808209, essv9808208
Samples401594MP, 400362TV
Known Genes
MethodSNP array
AnalysisWe used four separate algorithms to detect CNVs; Affymetrix Chromosome Analysis Suite (ChAS), iPattern, Nexus and Partek. Our primary analysis was performed based on ChAS CNV calls, which were then supported using the remaining three algorithms to construct a confidence set of CNVs. For all algorithms, we have used 8 probes and >1kb as a base line cutoff for CNV detection.
PlatformAffymetrix CytoScan HD 2.7M array
Comments
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)esv3581591
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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