A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1829e212



Internal ID22784756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:124921693..124928377hg38UCSC Ensembl
chr6:125242839..125249523hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg386685
hg196685
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3576225, esv3576229, esv3576226, esv3576228, esv3576224
Samples401482CB, 401474CE, 401020DJ, 400424LN, 400926LJ, 400204SC, 400739SS, 400789KV, 400114GR, 401275SJ, 400101EH, 401592NR, 401380OL, 401962BK, 400906BR, 400429YF, 402067KS, 401302LJ, 401783BD, 401719RL, 401491BB, 401442WR, 401249TP, 400730SH, 400641WJ, 400493KH, 400620MT, 400347VJ, 401500OM, 400528LR, 401634CH, 400298ME, 400718PS, 401808PS, 401792KR, 400482MD, 401006ES, 400882DD, 400337HG, 401690HA, 401184MM, 400749VW, 401832MC, 401664SD, 401550SP, 400609FJ, 400478WE, 400729HC, 400107MJ, 400270BD, 400186WC, 401739BJ, 400733SW, 401377MA, 401013GJ, 400793BR, 401873BK, 401977ES, 400282RA, 401050GS, 401505WI, 401785MJ, 400302HW, 401591BE, 401870FB, 400791GC, 400977SC, 401230NL, 400660GK, 401494PD, 401357MH, 401119DK, 401804FG, 401526WB, 400093BL, 401519SA, 400381CA, 401318AV, 401475MK, 401513KC, 401762SD, 401943KA, 400844GP, 401619BT, 400705KK, 401444LD, 401017SC, 400639RP, 400603CJ, 401981GF, 401039PA, 400846MC, 401702GB, 400258BC, 400520FM, 400354TJ, 400450FG, 401778CB, 40050SB, 400611GG, 400695PH, 400474GF, 400795CL, 401361GG, 400837HN, 400601WC, 400156WT, 401025SM, 401958MF, 401287CF, 400759FV, 401054VM, 400501SJ, 401661HD, 400410CD, 401571SD, 401858TP, 401240ML, 401152MV, 400930MK, 401372RR, 401135CS, 401763SG, 401681MS, 401358VP, 400106PC, 401912HD, 401781SL, 401266HM, 400315DA, 400013TA, 401177SL, 400833BB, 400508RD, 400178RH, 400150SS, 400079AP, 400012CJ, 400540BM, 400021ME, 400923OA, 401246HH, 400782IE, 401180GR, 401102RD, 401799DP, 400287BP, 401191MI, 401636WR, 401706BJ, 400927BD, 400308SP, 400599CP, 401465TB, 400880TM, 400618GC, 401852SK, 401640WJ, 401400NP, 401385BB, 401769CR, 400737GC, 400094RS, 400876OG, 40031BA, 401235IA, 400626FC, 400468OB, 401503MJ, 400683EC, 400574MA, 401742KB, 401498HH, 401117NA, 400272AE, 400866RR, 401966SR, 401079HJ, 401403TD, 401427CB, 401927SK, 400655WB, 401457WK, 400449PK, 401845MJ, 400077EB, 401093VL, 400897MD, 401674DD, 401556KR, 400797ST, 401536BD, 400225CJ, 400658BW, 400245SJ, 400441GS, 401253MC, 400523GB, 401936BA, 401258PC, 401975VD, 402028BD, 400631SJ, 401869BG, 400022WA, 401364NA, 400320RN, 401252AE, 400871CM, 400121PL, 400427SD, 401831TW, 400385LJ, 400338SR, 400353ML, 401198TI, 401994BD, 401818PC, 400717BD, 401801LA, 401393JW, 401238QR, 401353BC, 400109LJ, 400218WK, 400007RG, 401714BM, 401437MJ, 401027KW, 400236DB, 400870KC, 401939GD, 401499JR, 401274PA, 401091HS, 400955BE, 401736BF, 400838AM, 401694SG, 401278DM, 401185LE, 401879HJ, 401084BD, 400724CD, 401942MP, 401952UH, 400681MC, 401443JK, 400869BK, 400362TV, 400014SL, 402074RR, 401200BD, 401259LS, 400135DR, 401112LG, 401359HF, 400136DM, 401616WP, 400654YW, 400451kh, 401535RJ, 400624RJ, 400732MA, 401496SL, 400483DP, 401608GE, 400053LE, 400712GC, 400246MG, 401847RK, 401010HT, 402060PD, 400235MP, 401438HT, 402048WB, 401149VA, 400072GR, 401143LK, 400879DS, 401105WS, 400130HA, 401250WD, 400173KP, 400108BJ, 400581VJ, 401053MF, 400164SS, 401254AE, 400243CK, 401993HM, 400091BS, 400668TD, 401111LH
Known GenesSTL
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)dgv1829e212
Frequency
Sample Size873
Observed Gain294
Observed Loss0
Observed Complex0
Frequencyn/a


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