A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3573986



Internal ID18702184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:42041310..42131323hg38UCSC Ensembl
Innerchr18:39621274..39711287hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg3890014
hg1990014
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv982e212
Supporting Variantsessv9815637
Samples400869BK
Known GenesPIK3C3
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)esv3573986
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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