A curated catalogue of human genomic structural variation

Variant Details

Variant: esv3576957

Internal ID18358469
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:86035724..86038431hg38UCSC Ensembl
InnerchrX:85290728..85293435hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2326e212
Supporting Variantsessv9826886, 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
Samples400128MJ, 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 GenesCHM
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
Pubmed ID25503493
Accession Number(s)esv3576957
Sample Size873
Observed Gain313
Observed Loss0
Observed Complex0

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