A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv176e212



Internal ID19007384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:13014587..13024311hg38UCSC Ensembl
chr10:13056587..13066311hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg389725
hg199725
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3578644, esv3578642
Samples400724CD, 400534ME, 401022ML, 401030GI, 400999HR, 400082SD
Known GenesCCDC3
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)dgv176e212
Frequency
Sample Size873
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer