A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3580474



Internal ID18361986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:114707527..114711436hg38UCSC Ensembl
Innerchr12:115145332..115149241hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg383910
hg193910
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv516e212
Supporting Variantsessv9802198, essv9802196, essv9802195, essv9802197
Samples401674DD, 400236DB, 401804FG, 400994HJ
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)esv3580474
Frequency
Sample Size873
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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