A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3573257



Internal ID18354769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:70276912..70285886hg38UCSC Ensembl
Innerchr9:72891828..72900802hg19UCSC Ensembl
Cytoband9q21.12
Allele length
AssemblyAllele length
hg388975
hg198975
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2159e212
Supporting Variantsessv9791062, essv9791063, essv9791048, essv9791056, essv9791059, essv9791043, essv9791042, essv9791053, essv9791041, essv9791047, essv9791057, essv9791054, essv9791058, essv9791061, essv9791050, essv9791051, essv9791064, essv9791046, essv9791052, essv9791040, essv9791060, essv9791045, essv9791039, essv9791049
Samples400987FB, 400802DP, 401146US, 401117NA, 400797ST, 401551MB, 401975VD, 401214BJ, 401994BD, 401739BJ, 400302HW, 401804FG, 401513KC, 400050RL, 401011PJ, 400458LS, 401496SL, 401315HK, 401786WD, 401567BD, 401576WC, 400021ME, 400704LC, 401180GR
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)esv3573257
Frequency
Sample Size873
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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