A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv767e212



Internal ID20149223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:101805231..101811796hg38UCSC Ensembl
chr15:102345434..102351999hg19UCSC Ensembl
Cytoband15q26.3
Allele length
AssemblyAllele length
hg386566
hg196566
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3581887, esv3581881, esv3581883, esv3581885, esv3581884
Samples401102RD, 401021SC, 401191MI, 400920MK, 400599CP, 401212HJ, 401489CB, 400789KV, 401261HD, 400468OB, 401899MB, 401491BB, 401931JL, 401195PN, 400625FT, 400855BD, 401556KR, 400425SL, 401582GG, 400658BW, 401281BP, 401792KR, 400482MD, 400051MR, 402064DC, 400148MS, 400526DR, 400583HS, 401832MC, 401664SD, 401965TG, 401495NR, 400836LK, 401818PC, 400653GP, 401773AM, 401609MB, 400186WC, 400002HK, 400929MM, 400983PV, 400383HL, 401785MJ, 401725MR, 401691HA, 400240HJ, 400960TN, 401278DM, 401879HJ, 401930GD, 401813DN, 401262RR, 401892MJ, 400888MS, 400211BJ, 400242TP, 400869BK, 400319HT, 400258BC, 400177CG, 400444MM, 400722OM, 401365DJ, 400246MG, 401847RK, 400069CN, 401012TP, 401287CF, 400235MP, 400128MJ, 402048WB, 400328LM, 401100SJ, 400177SJ, 401728WK, 401177SL, 400291VJ, 400300SD, 400209BS, 401510DG, 400091BS
Known GenesOR4F6
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)dgv767e212
Frequency
Sample Size873
Observed Gain0
Observed Loss81
Observed Complex0
Frequencyn/a


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