A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv316e212



Internal ID22783243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:5772198..5788218hg38UCSC Ensembl
chr11:5793428..5809448hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3816021
hg1916021
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3579277, esv3579276, esv3579319, esv3579290, esv3579300, esv3579320, esv3579274, esv3579275, esv3579301, esv3579296, esv3579324
Samples401191MI, 400911GA, 401706BJ, 401420PJ, 400908PJ, 400364SS, 400880TM, 400204SC, 400594VJ, 401077VC, 401911FL, 401036WS, 401783BD, 401457WK, 401442WR, 400059SV, 401936BA, 401551MB, 401390DG, 402019MC, 401687LR, 400203NA, 401690HA, 400127MD, 402012RR, 401672FD, 400320RN, 400338SR, 402061PI, 401818PC, 400333CC, 401997HB, 400352CA, 401175FA, 400974PS, 401691HA, 402063WM, 401589HP, 401717LP, 401594MP, 401119DK, 400381CA, 401333MM, 401563TK, 401762SD, 401504RJ, 402001SR, 400362TV, 401580CA, 401307VR, 401922MW, 400943DV, 400471YS, 401268PS, 401881TJ, 401847RK, 401314MK, 401135CS, 401154BR, 401177SL, 400261RN, 401628GC, 401284NA, 400178RH, 401576WC, 401254AE, 400923OA, 401068SD
Known GenesOR52N1, OR52N5
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)dgv316e212
Frequency
Sample Size873
Observed Gain0
Observed Loss68
Observed Complex0
Frequencyn/a


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