Variant DetailsVariant: esv3576957 | Internal ID | 18358469 | | Landmark | | | Location Information | | | Cytoband | Xq21.2 | | Allele length | | Assembly | Allele length | | hg38 | 2708 | | hg19 | 2708 |
| | Variant Type | CNV gain | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | dgv2326e212 | | Supporting Variants | essv9826886, essv9827097, essv9826954, essv9826952, essv9827202, essv9827171, essv9827168, essv9827258, essv9826890, essv9827119, essv9827063, essv9826902, essv9827236, essv9826913, essv9826962, essv9827249, essv9826982, essv9827007, essv9826909, essv9827004, essv9827039, essv9827180, essv9826884, essv9827164, essv9827106, essv9826939, essv9826897, essv9826950, essv9826996, essv9827048, essv9826990, essv9826991, essv9827148, essv9826910, essv9827218, essv9827227, essv9827242, essv9827261, essv9827143, essv9827201, essv9826960, essv9826983, essv9827103, essv9827245, essv9826987, essv9826945, essv9827156, essv9827176, essv9826976, essv9826941, essv9827082, essv9827099, essv9826926, essv9827216, essv9827262, essv9827210, essv9827116, essv9827252, essv9827150, essv9826919, essv9827207, essv9827005, essv9827198, essv9827186, essv9827263, essv9827008, essv9826953, essv9826973, essv9827023, essv9827140, essv9827181, essv9826948, essv9827139, essv9827269, essv9827203, essv9826956, essv9827142, essv9827220, essv9827028, essv9827251, essv9826961, essv9826964, essv9826980, essv9826974, essv9827190, essv9827123, essv9826979, essv9826992, essv9827090, essv9827219, essv9826972, essv9827065, essv9827037, essv9827223, essv9827221, essv9826981, essv9826927, essv9827246, essv9827091, essv9827268, essv9827043, essv9827045, essv9827161, essv9827173, essv9827017, essv9827154, essv9826985, essv9827080, essv9827085, essv9827051, essv9826936, essv9827040, essv9827151, essv9827104, essv9827117, essv9827184, essv9827030, essv9827035, essv9826958, essv9827056, essv9827248, essv9827149, essv9826937, essv9827012, essv9826917, essv9827027, essv9827047, essv9827243, essv9827059, essv9827093, essv9827113, essv9827257, essv9827009, essv9826905, essv9827231, essv9827128, essv9827092, essv9827061, essv9827079, essv9826904, essv9827241, essv9827072, essv9827132, essv9827174, essv9827197, essv9826908, essv9826912, essv9827086, essv9827264, essv9827026, essv9827193, essv9827250, essv9827042, essv9826967, essv9827225, essv9826943, essv9826906, essv9827232, essv9827178, essv9826999, essv9827112, essv9827096, essv9827153, essv9826895, essv9826947, essv9827015, essv9827036, essv9827179, essv9827019, essv9827046, essv9827127, essv9826896, essv9827114, essv9826971, essv9827032, essv9827159, essv9826920, essv9826915, essv9826893, essv9827050, essv9827049, essv9827094, essv9827001, essv9827187, essv9827195, essv9827192, essv9826963, essv9827021, essv9827152, essv9827226, essv9827068, essv9827130, essv9827126, essv9826901, essv9826885, essv9826995, essv9826986, essv9827118, essv9827234, essv9826946, essv9826888, essv9827025, essv9827209, essv9826882, essv9827160, essv9827205, essv9827020, essv9827087, essv9827208, essv9827109, essv9827137, essv9827260, essv9827110, essv9827213, essv9827224, essv9827237, essv9827136, essv9827267, essv9826899, essv9827217, essv9827239, essv9827016, essv9827073, essv9827206, essv9826938, essv9827121, essv9827215, essv9826997, essv9826975, essv9827162, essv9827247, essv9827081, essv9827214, essv9827054, essv9827134, essv9827270, essv9827018, essv9827101, essv9827107, essv9826924, essv9827038, essv9826988, essv9827124, essv9827158, essv9827259, essv9827095, essv9827212, essv9826994, essv9827074, essv9827141, essv9826984, essv9826914, essv9826930, essv9827034, essv9827076, essv9827204, essv9827067, essv9827115, essv9826894, essv9827238, essv9826883, essv9827029, essv9827071, essv9826928, essv9826998, essv9827191, essv9827256, essv9827075, essv9827078, essv9826942, essv9826903, essv9827147, essv9826923, essv9826993, essv9826940, essv9827058, essv9827129, essv9827170, essv9827235, essv9826951, essv9827064, essv9827145, essv9826898, essv9827024, essv9827053, essv9827172, essv9827229, essv9827254, essv9826957, essv9827228, essv9827138, essv9827006, essv9827125, essv9827163, essv9826959, essv9827165, essv9827169, essv9827098, essv9827175, essv9827013, essv9827182, essv9826929, essv9827060, essv9827230, essv9826968, essv9827120, essv9826932, essv9827135, essv9827157, essv9827105, essv9826934, essv9827062, essv9827108 | | Samples | 400128MJ, 400427SD, 402067KS, 401595BL, 400768MN, 401017SC, 401266HM, 400105BB, 401674DD, 401491BB, 400094RS, 400130HA, 400908PJ, 401212HJ, 401739BJ, 402009WP, 400107MJ, 400313DF, 401500OM, 400688FL, 401661HD, 401504RJ, 401039PA, 400416KA, 401733CG, 401812HG, 400948EV, 401556KR, 401841OB, 400879DS, 400255CD, 400246MG, 400106PC, 401664SD, 401587RC, 400379BB, 401176BD, 400983PV, 401567BD, 401075MN, 401308LD, 400291VJ, 400271SR, 400793BR, 400269DA, 400343BD, 400458LS, 400788PV, 401819BS, 400507VD, 400213DB, 400518MS, 401355CD, 400653GP, 401184MM, 401307VR, 401057SS, 401326LI, 401016IT, 400663MD, 400376SJ, 401183HP, 402063WM, 400572PJ, 400225CJ, 401453OL, 401091HS, 400923OA, 400579HJ, 400999HR, 400278PD, 400792RE, 401196CR, 401594MP, 400631SJ, 400482MD, 401311GL, 400069CN, 400893ZE, 400002HK, 400113LD, 401861GG, 401950MD, 400508RD, 401346FJ, 401630MK, 401792KR, 401609MB, 400743LS, 401021SC, 400136DM, 401077VC, 401931JL, 401975VD, 400598DA, 401177SL, 401292ER, 402033WD, 401480PG, 401029SD, 401900RJ, 402023EC, 402022SM, 400121PL, 401386WA, 400352CA, 400564SN, 400595CP, 402029KJ, 400266BA, 400383HL, 401949MN, 401239PR, 401330RR, 400131CM, 401096SL, 402038MR, 400453LN, 401110GJ, 400377WJ, 400543CK, 400422PN, 401506LK, 401822TL, 400141CC, 400758KP, 401152MV, 400070PC, 400583HS, 401112LG, 401780BB, 401420PJ, 400574MA, 400364SS, 400424LN, 401143LK, 401259LS, 401773AM, 401013GJ, 401873BK, 400581VJ, 400619MP, 401475MK, 400506GN, 400732MA, 400737GC, 400914ER, 400145BL, 401249TP, 400329HJ, 400356MC, 401278DM, 400270BD, 400103BN, 400032RC, 401406KF, 401825TH, 401968HL, 400021ME, 401646MC, 400852WJ, 400728PB, 400953MR, 401592NR, 401918CA, 400374LB, 401040KM, 401628GC, 401719RL, 400091BS, 400177CG, 401357MH, 401965TG, 401084BD, 401385BB, 401795SP, 400496BL, 401730MS, 400082SD, 400325BE, 401050GS, 400871CM, 401496SL, 401834CB, 401066MM, 402048WB, 402008MC, 400323AA, 401700BN, 401191MI, 400066MA, 401672FD, 401254AE, 400627CC, 400869BK, 401277RA, 400982BS, 400749VW, 400006DK, 400838AM, 400650RM, 400582WS, 401623SN, 400833BB, 401634CH, 401102RD, 401166WJ, 401020DJ, 401135CS, 400044HS, 400449PK, 401235IA, 401855RE, 400295PS, 400442FE, 401133JG, 400243CK, 400626FC, 400769SL, 400783MJ, 400977SC, 401882CR, 400124FR, 400221VM, 400639RP, 401493HC, 400645KM, 401698SB, 401331LJ, 400974PS, 400101EH, 401190WC, 401151RJ, 400624RJ, 400658BW, 400817MB, 401185LE, 400041LJ, 400455SJ, 400425SL, 400430KV, 400338SR, 400791GC, 401153HS, 400292LP, 402052ZA, 400920MK, 401119DK, 400468OB, 401087SF, 401321CE, 400272AE, 402001SR, 401261HD, 401535RJ, 401862AN, 401838EN, 400122PL, 40050SB, 400209BS, 400156WT, 401353BC, 400525MR, 401302LJ, 401711WS, 400801HS, 402073LQ, 400158FB, 400955BE, 401813DN, 401906DT, 401908YM, 401728WK, 401832MC, 400669LD, 400340CD, 401274PA, 401400NP, 400520FM, 400978JG, 400882DD, 401052BM, 400312CR, 401064FR, 401538NS, 400474GF, 401333MM, 400843FL, 400888MS, 400654YW, 400949AM, 400942HR, 401253MC, 400545EW, 400359OR, 401804FG, 401230NL, 400072GR, 401380OL, 401640WJ, 401769CR, 401434VN, 400501SJ, 400454RE, 400609FJ, 401030GI, 401285HN, 402061PI, 400093BL, 401922MW, 400047DS, 400362TV, 400821FE | | Known Genes | CHM | | 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) | esv3576957
| | Frequency | | Sample Size | 873 | | Observed Gain | 313 | | Observed Loss | 0 | | Observed Complex | 0 | | Frequency | n/a |
|
|
