A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3581251



Internal ID18362763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:66818857..66826634hg38UCSC Ensembl
Innerchr14:67285575..67293352hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg387778
hg197778
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9805969, essv9805968, essv9805967
Samples400494ML, 400113LD, 401117NA
Known GenesGPHN
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)esv3581251
Frequency
Sample Size873
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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