A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3582082



Internal ID18710280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:133105970..133183134hg38UCSC Ensembl
Innerchr12:133682556..133759720hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3877165
hg1977165
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv534e212
Supporting Variantsessv9802934
Samples400177CG
Known GenesZNF10, ZNF140, ZNF268, ZNF891
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)esv3582082
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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