A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2159e212



Internal ID20150615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:70276912..70285990hg38UCSC Ensembl
chr9:72891828..72900906hg19UCSC Ensembl
Cytoband9q21.12
Allele length
AssemblyAllele length
hg389079
hg199079
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3573258, esv3573257
Samples401146US, 401739BJ, 400797ST, 401804FG, 400987FB, 401551MB, 401567BD, 400458LS, 400802DP, 401180GR, 401975VD, 400302HW, 401011PJ, 401214BJ, 401117NA, 400732MA, 401315HK, 400021ME, 401786WD, 401265CB, 400704LC, 401496SL, 401994BD, 401576WC, 400050RL, 401513KC
Known GenesSMC5
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)dgv2159e212
Frequency
Sample Size873
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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