A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3581234



Internal ID18362746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:66569241..66574434hg38UCSC Ensembl
Innerchr14:67035959..67041152hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg385194
hg195194
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9805939, essv9805938, essv9805934, essv9805943, essv9805941, essv9805936, essv9805937, essv9805931, essv9805940, essv9805945, essv9805932, essv9805946, essv9805947, essv9805930, essv9805935, essv9805942
Samples401196CR, 401385BB, 401966SR, 401792KR, 401869BG, 401303FM, 401818PC, 400109LJ, 400974PS, 401652HL, 400800MW, 400705KK, 400869BK, 401369GR, 400586RD, 401372RR
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)esv3581234
Frequency
Sample Size873
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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