A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3581241



Internal ID18362753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:66703039..66707751hg38UCSC Ensembl
Innerchr14:67169757..67174469hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg384713
hg194713
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv645e212
Supporting Variantsessv9805953, essv9805952, essv9805954, essv9805956
Samples401474CE, 401077VC, 400272AE, 400785AK
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)esv3581241
Frequency
Sample Size873
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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