A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3582104



Internal ID18363616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:19844916..19874867hg38UCSC Ensembl
Innerchr13:20419056..20449007hg19UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg3829952
hg1929952
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv535e212
Supporting Variantsessv9802953, essv9802954
Samples401962BK, 401183HP
Known GenesZMYM5
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)esv3582104
Frequency
Sample Size873
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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