A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv646e212



Internal ID20149102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:66703039..66711201hg38UCSC Ensembl
chr14:67169757..67177919hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg388163
hg198163
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3581247, esv3581243
Samples401361GG, 401898DS, 401251WN
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)dgv646e212
Frequency
Sample Size873
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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