A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3576692



Internal ID18704890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:114324735..114332800hg38UCSC Ensembl
Innerchr9:117087015..117095080hg19UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg388066
hg198066
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2182e212
Supporting Variantsessv9791574, essv9791576, essv9791568, essv9791585, essv9791581, essv9791575, essv9791569, essv9791587, essv9791584, essv9791573, essv9791577, essv9791570, essv9791582, essv9791566, essv9791571, essv9791583, essv9791586, essv9791579, essv9791580, essv9791565, essv9791572, essv9791588
Samples401749DJ, 400889CM, 401911FL, 401742KB, 401719RL, 401468RL, 400340CD, 400493KH, 401136LB, 401924ST, 401860TJ, 400134WK, 400929MM, 401717LP, 401618HR, 400006DK, 400524NJ, 40050SB, 401288LD, 401809FU, 400315DA, 401053MF
Known GenesORM1, ORM2
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)esv3576692
Frequency
Sample Size873
Observed Gain22
Observed Loss0
Observed Complex0
Frequencyn/a


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