A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv369e212



Internal ID20148825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:55595851..55686087hg38UCSC Ensembl
chr11:55363327..55453563hg19UCSC Ensembl
Cytoband11q11
Allele length
AssemblyAllele length
hg3890237
hg1990237
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3579261, esv3579449, esv3578917, esv3579161, esv3579361, esv3579494, esv3579039, esv3579349, esv3579316, esv3578871, esv3579139, esv3578983, esv3579405, esv3579327, esv3579438, esv3579505, esv3578893, esv3578950, esv3579305, esv3579028, esv3579427, esv3579272, esv3579016, esv3579250, esv3579372, esv3578904, esv3579483, esv3579150
Samples400520FM, 400191MP, 400427SD, 401052BM, 401595BL, 401221LD, 400534ME, 400949AM, 401495NR, 401979TB, 400778SR, 401543DC, 400030WD, 400545EW, 401165SB, 401438HT, 401912HD, 400789KV, 400558BL, 400168HC, 401175FA, 400132HN, 401489CB, 400294HD, 401841OB, 401972BA, 400381CA, 400454RE, 400255CD, 401566DD, 400246MG, 401074CM, 401517PR, 400540BM, 400047DS, 400821FE, 400379BB, 401176BD, 401602PR, 401354KM, 400277LM, 401943KA, 401075MN, 400458LS, 400213DB, 400653GP, 400494ML, 400603CJ, 400663MD, 401809FU, 401552BK, 400730SH, 401210PB, 400631SJ, 401771OS, 400930MK, 400482MD, 401487FW, 401442WR, 401630MK, 400615RI, 401609MB, 400038CK, 400136DM, 401931JL, 401975VD, 401177SL, 400863SS, 401864CV, 400564SN, 400523GB, 400383HL, 401448BJ, 401734PG, 401096SL, 401203MP, 401822TL, 400307HW, 401603HH, 400059SV, 401152MV, 401348RB, 400410CD, 400574MA, 401117NA, 402074RR, 400063BR, 401881TJ, 401873BK, 400282RA, 400619MP, 400737GC, 401935TM, 400411TG, 401249TP, 400033KC, 400329HJ, 401278DM, 400103BN, 400021ME, 400385LJ, 401592NR, 401918CA, 400218WK, 401719RL, 400785AK, 400341GL, 401251WN, 401618HR, 400795CL, 401730MS, 400618GC, 402048WB, 401994BD, 401365DJ, 401700BN, 401191MI, 400721DJ, 401672FD, 400542EG, 401277RA, 400571WV, 400866RR, 400006DK, 401377MA, 401899MB, 400650RM, 400906BR, 400601WC, 400444MM, 400620MT, 400512LR, 401498HH, 401634CH, 401020DJ, 401859GS, 401589HP, 400977SC, 401287CF, 400836LK, 400124FR, 400639RP, 401698SB, 401746WW, 401845MJ, 400974PS, 400101EH, 401151RJ, 400817MB, 400425SL, 400338SR, 400292LP, 400079AP, 401791FG, 400050RL, 401261HD, 400235MP, 400122PL, 400588BE, 400209BS, 400525MR, 400158FB, 401906DT, 400509CJ, 400695PH, 400245SJ, 400340CD, 400844GP
Known GenesOR4C11, OR4C6, OR4P4, OR4S2
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)dgv369e212
Frequency
Sample Size873
Observed Gain168
Observed Loss0
Observed Complex0
Frequencyn/a


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