A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584437



Internal ID18712635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:51865924..51867316hg38UCSC Ensembl
Innerchr14:52332642..52334034hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg381393
hg191393
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9805781, essv9805776, essv9805777, essv9805782, essv9805783, essv9805780
Samples402067KS, 400730SH, 400855BD, 400109LJ, 400076LC, 401778CB
Known GenesGNG2
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)esv3584437
Frequency
Sample Size873
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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