A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv649e212



Internal ID22783576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:68133916..68142771hg38UCSC Ensembl
chr14:68600633..68609488hg19UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg388856
hg198856
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3567987, esv3567965, esv3567976, esv3567954
Samples400316SL, 401033DJ, 401806DL, 401020DJ, 400649PS, 401420PJ, 400063BR, 401292ER, 400926LJ, 400268SY, 400789KV, 401052BM, 400821FE, 400554WB, 400114GR, 400572PJ, 401592NR, 401380OL, 401074CM, 401911FL, 400083TG, 400852WJ, 401719RL, 401442WR, 400899NK, 401721CP, 401820SD, 400059SV, 401426WD, 400509CJ, 400493KH, 400486LS, 401551MB, 400528LR, 400298ME, 401808PS, 400227MM, 400051MR, 402064DC, 401006ES, 400882DD, 400337HG, 400503HD, 400600DP, 402012RR, 400460DM, 401832MC, 401566DD, 400307HW, 401746WW, 402029KJ, 400107MJ, 400507VD, 401739BJ, 400002HK, 400793BR, 401050GS, 400825TW, 401591BE, 400110MD, 402033WD, 400702PA, 401623SN, 401230NL, 400660GK, 400240HJ, 401119DK, 400960TN, 400496BL, 401526WB, 400381CA, 401586RS, 401864CV, 401475MK, 401930GD, 401762SD, 401630MK, 400124FR, 4000657TM, 401606CG, 401444LD, 400547BS, 401087SF, 400886MP, 400639RP, 401889FR, 400211BJ, 400248JO, 401580CA, 400520FM, 401307VR, 400721DJ, 40050SB, 401176BD, 400611GG, 400474GF, 401700BN, 401182OC, 401922MW, 400430KV, 400177CG, 401677MM, 401361GG, 401203MP, 400542EG, 401898DS, 400601WC, 401295HB, 400759FV, 401054VM, 400410CD, 400859SC, 401858TP, 401265CB, 401861GG, 401567BD, 401797LS, 400271SR, 400849SH, 401358VP, 401912HD, 401781SL, 400785AK, 400835FD, 401554VN, 401177SL, 400213DB, 401153HS, 400178RH, 400291VJ, 400150SS, 401510DG, 401480PG, 401066MM, 400532MH, 401459HF, 400920MK, 400911GA, 401706BJ, 400599CP, 400364SS, 400145BL, 401465TB, 401162TM, 401221LD, 400455SJ, 400336BG, 400132HN, 401769CR, 400594VJ, 40031BA, 400294HD, 401503MJ, 400622SJ, 400574MA, 401742KB, 401498HH, 400272AE, 401966SR, 401427CB, 400595CP, 401195PN, 400625FT, 400897MD, 401824MM, 400340CD, 400191MP, 400225CJ, 400245SJ, 401253MC, 401936BA, 401390DG, 401990PR, 401258PC, 401064FR, 401924ST, 401860TJ, 401780BB, 400022WA, 400320RN, 401538NS, 400121PL, 400292LP, 400427SD, 401838EN, 401831TW, 401596PJ, 400374LB, 400338SR, 400341GL, 400717BD, 402056KD, 401393JW, 400113LD, 401646MC, 400109LJ, 401620BA, 400218WK, 400442FE, 401331LJ, 400974PS, 400515ZG, 401900RJ, 401714BM, 401655DC, 401251WN, 401939GD, 401499JR, 401540NA, 401834CB, 401913GT, 400783MJ, 401853WR, 401185LE, 401333MM, 401859GS, 400724CD, 401504RJ, 400171BJ, 402054BD, 401892MJ, 401443JK, 400854SG, 401067BD, 400869BK, 400362TV, 402074RR, 401369GR, 401200BD, 400999HR, 401259LS, 401359HF, 400943DV, 400136DM, 401616WP, 401057SS, 400728PB, 400168HC, 400732MA, 400053LE, 400845ML, 401012TP, 400235MP, 401149VA, 4000046CJ, 400044HS, 400719TM, 402073LQ, 400792RE, 401543DC, 401817MC, 401458RT, 401932GN, 401453OL, 400209BS, 400164SS, 401612HB, 401576WC, 402024BB, 401254AE, 401993HM, 400234CA, 401111LH, 400704LC
Known GenesRAD51B
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)dgv649e212
Frequency
Sample Size873
Observed Gain264
Observed Loss0
Observed Complex0
Frequencyn/a


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