A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv667e212



Internal ID20149123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:80564342..80581862hg38UCSC Ensembl
chr14:81030686..81048206hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg3817521
hg1917521
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3581334, esv3581335
Samples401812HG, 401952UH
Known GenesCEP128
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)dgv667e212
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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