A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv647e212



Internal ID19007855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:67536005..67542075hg38UCSC Ensembl
chr14:68002722..68008792hg19UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg386071
hg196071
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3581258, esv3581257
Samples401505WI, 400722OM, 400298ME, 401608GE, 401087SF
Known GenesPLEKHH1
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)dgv647e212
Frequency
Sample Size873
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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