A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9805178



Internal ID18327148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:35060670..35255038hg38UCSC Ensembl
Innerchr14:35529876..35724244hg19UCSC Ensembl
Cytoband14q13.2
Allele length
AssemblyAllele length
hg38194369
hg19194369
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3584249
Supporting Variants
Samples401401BA
Known GenesFAM177A1, KIAA0391, PPP2R3C
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=204
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9805178
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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