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