A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9805394



Internal ID18647669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:43349344..43779451hg38UCSC Ensembl
Innerchr14:43818547..44248654hg19UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg38430108
hg19430108
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3584348
Supporting Variants
Samples400615RI
Known Genes
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
CommentsNumber of probes=288
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9805394
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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