A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3576691



Internal ID18704889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:114324735..114331888hg38UCSC Ensembl
Innerchr9:117087015..117094168hg19UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg387154
hg197154
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2182e212
Supporting Variantsessv9791526, essv9791551, essv9791527, essv9791531, essv9791563, essv9791523, essv9791552, essv9791546, essv9791550, essv9791560, essv9791535, essv9791509, essv9791558, essv9791543, essv9791553, essv9791541, essv9791562, essv9791517, essv9791513, essv9791536, essv9791521, essv9791538, essv9791557, essv9791540, essv9791561, essv9791514, essv9791525, essv9791564, essv9791537, essv9791524, essv9791518, essv9791548, essv9791539, essv9791512, essv9791549, essv9791515, essv9791559, essv9791532, essv9791519, essv9791530, essv9791547, essv9791542, essv9791544, essv9791516, essv9791529, essv9791528, essv9791520, essv9791554, essv9791510, essv9791555
Samples401420PJ, 400439IM, 400468OB, 400956AM, 401299ST, 400506GN, 400625FT, 400199SA, 401674DD, 401556KR, 400948EV, 400953MR, 400379BB, 401551MB, 401935TM, 400231LP, 400356MC, 400717BD, 401801LA, 401234MB, 401764JJ, 400763BT, 401726LW, 400416KA, 400974PS, 401091HS, 401519SA, 401419SW, 401762SD, 401619BT, 401311GL, 400444MM, 400451kh, 400454RE, 400168HC, 400103BN, 401881TJ, 400069CN, 401413RG, 401543DC, 401358VP, 401607LL, 401040KM, 400213DB, 400178RH, 401510DG, 401517PR, 400152MR, 400138LA, 401180GR
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)esv3576691
Frequency
Sample Size873
Observed Gain50
Observed Loss0
Observed Complex0
Frequencyn/a


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