A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3581102



Internal ID18362614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:32357625..32363000hg38UCSC Ensembl
Innerchr14:32826831..32832206hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg385376
hg195376
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9805140, essv9805139
Samples400320RN, 400173KP
Known GenesAKAP6
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)esv3581102
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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