Variant DetailsVariant: esv3578388 | Internal ID | 18359900 | | Landmark | | | Location Information | | | Cytoband | 1q32.1 | | Allele length | | Assembly | Allele length | | hg38 | 12538 | | hg19 | 12538 |
| | Variant Type | CNV loss | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | dgv138e212 | | Supporting Variants | essv9804200, essv9802622, essv9803900, essv9804055, essv9804100, essv9803933, essv9802600, essv9803200, essv9803966, essv9802389, essv9804111, essv9804277, essv9804011, essv9802578, essv9802467, essv9803889, essv9802933, essv9804144, essv9803423, essv9804255, essv9803500, essv9803356, essv9803100, essv9802778, essv9803667, essv9802478, essv9802511, essv9803578, essv9802767, essv9802711, essv9803334, essv9802978, essv9803867, essv9804155, essv9803089, essv9803878, essv9803600, essv9803011, essv9802656, essv9802434, essv9803689, essv9804000, essv9803545, essv9802955, essv9804177, essv9803911, essv9803000, essv9803155, essv9802833, essv9802423, essv9803633, essv9802400, essv9802789, essv9803411, essv9803177, essv9802855, essv9803489, essv9803345, essv9803244, essv9803822, essv9804066, essv9803166, essv9804089, essv9802411, essv9804033, essv9803789, essv9803389, essv9802889, essv9802922, essv9803467, essv9803434, essv9803989, essv9803722, essv9803367, essv9802878, essv9803767, essv9803144, essv9802867, essv9804133, essv9804188, essv9803800, essv9803222, essv9802589, essv9803855, essv9803378, essv9802811, essv9802800, essv9802489, essv9803323, essv9804233, essv9803756, essv9803033, essv9802500, essv9802756, essv9802689, essv9802534, essv9804288, essv9804044, essv9802556, essv9803711, essv9803700, essv9802911, essv9802667, essv9803534, essv9802989, essv9803233, essv9804244, essv9803299, essv9804122, essv9803456, essv9803211, essv9802722, essv9802633, essv9803944, essv9803445, essv9803511, essv9803733, essv9804266, essv9803833, essv9804022, essv9803312, essv9803133, essv9803111, essv9803589, essv9803622, essv9802445, essv9802611, essv9802678, essv9803522, essv9802456, essv9804077, essv9803288, essv9803055, essv9803277, essv9803122, essv9804211, essv9803400, essv9802733, essv9803678, essv9803844, essv9802900, essv9802378, essv9803266, essv9803077, essv9803656, essv9803567, essv9803922, essv9803645, essv9802844, essv9803044, essv9803955, essv9803778, essv9803744, essv9803022, essv9803978, essv9802944, essv9802645, essv9804222, essv9802700, essv9802522, essv9803255, essv9803611, essv9802966, essv9802567, essv9803478, essv9803066, essv9802822, essv9802545, essv9803556, essv9803188, essv9803811, essv9804166, essv9802744 | | Samples | 400359OR, 400927BD, 401162TM, 401196CR, 400204SC, 400534ME, 401052BM, 401285HN, 401734PG, 400336BG, 400594VJ, 400094RS, 401077VC, 401962BK, 401972BA, 401415CB, 400230TB, 401321CE, 400141CC, 401403TD, 401783BD, 401719RL, 401899MB, 401442WR, 401845MJ, 401698SB, 400625FT, 400553PP, 400325BE, 401096SL, 401733CG, 401820SD, 401603HH, 400199SA, 401434VN, 400797ST, 400545EW, 401402EN, 401355CD, 400425SL, 400493KH, 400245SJ, 400523GB, 400241CP, 400528LR, 400155CW, 402016HZ, 400893ZE, 400669LD, 402062KR, 401792KR, 401263HS, 401869BG, 400773GS, 402038MR, 400061DE, 401401BA, 400526DR, 400022WA, 402012RR, 400320RN, 401538NS, 401184MM, 400033KC, 400427SD, 401550SP, 401104DM, 401038LN, 402061PI, 400333CC, 401532LJ, 400341GL, 402056KD, 401609MB, 400107MJ, 401739BJ, 401192MJ, 400733SW, 400413FJ, 400041LJ, 400282RA, 400983PV, 400007RG, 401084TD, 400870KC, 400040CN, 400070PC, 400955BE, 400702PA, 401913GT, 400977SC, 400838AM, 400207HN, 400768MN, 401230NL, 401717LP, 401494PD, 400960TN, 400496BL, 401804FG, 401526WB, 401278DM, 400758KP, 400543CK, 400043HC, 401864CV, 400076LC, 401563TK, 401419SW, 401930GD, 401813DN, 401762SD, 401942MP, 401478RD, 400361HC, 402001SR, 400371GA, 400248JO, 401039PA, 401711WS, 401200BD, 400520FM, 400450FG, 401874DJ, 401696CG, 40050SB, 401112LG, 400474GF, 401182OC, 401410BJ, 400788PV, 400795CL, 400444MM, 401391PJ, 400654YW, 401361GG, 401057SS, 400837HN, 401203MP, 400458LS, 400722OM, 400053LE, 402009WP, 400712GC, 401315HK, 401295HB, 401277RA, 400759FV, 401894PD, 401054VM, 401661HD, 400128MJ, 402048WB, 401571SD, 400971MK, 400205SP, 401135CS, 401797LS, 400849SH, 400778SR, 401105WS, 401781SL, 400173KP, 400084DM, 401554VN, 401040KM, 400261RN, 400021ME, 400238BB, 400942HR, 400255CD, 400923OA, 401246HH | | Known Genes | RASSF5 | | Method | SNP array | | Analysis | We 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. | | Platform | Affymetrix CytoScan HD 2.7M array | | Comments | | | Reference | Uddin_et_al_2014 | | Pubmed ID | 25503493 | | Accession Number(s) | esv3578388
| | Frequency | | Sample Size | 873 | | Observed Gain | 0 | | Observed Loss | 173 | | Observed Complex | 0 | | Frequency | n/a |
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