A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv542e212



Internal ID22783469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:43160554..43214467hg38UCSC Ensembl
chr13:43734690..43788603hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg3853914
hg1953914
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3582305, esv3582327, esv3582316
Samples401860TJ, 401532LJ, 401591BE
Known GenesENOX1
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)dgv542e212
Frequency
Sample Size873
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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