A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3580214



Internal ID18361726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:29448596..29465340hg38UCSC Ensembl
Innerchr12:29601529..29618273hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg3816745
hg1916745
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9801102, essv9801103, essv9801104
Samples401275SJ, 400444MM, 400675HC
Known GenesOVCH1, OVCH1-AS1
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)esv3580214
Frequency
Sample Size873
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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