A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3601263



Internal ID6641520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:86725248..86730805hg38UCSC Ensembl
Innerchr4:86725248..86730805hg38UCSC Ensembl
Outerchr4:86724763..86731202hg38UCSC Ensembl
chr4:87646401..87651958hg19UCSC Ensembl
Innerchr4:87646401..87651958hg19UCSC Ensembl
Outerchr4:87645916..87652355hg19UCSC Ensembl
Cytoband4q21.3
Allele length
AssemblyAllele length
hg385558
hg195558
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11526970, essv11526952, essv11527000, essv11526966, essv11527134, essv11527097, essv11527082, essv11527096, essv11526972, essv11526984, essv11527170, essv11526944, essv11527122, essv11527103, essv11527005, essv11527163, essv11527137, essv11527092, essv11527147, essv11527098, essv11527026, essv11526945, essv11526951, essv11526967, essv11526946, essv11527058, essv11527101, essv11527151, essv11527036, essv11527022, essv11526971, essv11527138, essv11526968, essv11527089, essv11527111, essv11527027, essv11526940, essv11527024, essv11526995, essv11526953, essv11526994, essv11527069, essv11527019, essv11527155, essv11526977, essv11527065, essv11527032, essv11527127, essv11526988, essv11527039, essv11526973, essv11527146, essv11527015, essv11526963, essv11527080, essv11527014, essv11527074, essv11526965, essv11526938, essv11527100, essv11527081, essv11527046, essv11527088, essv11527141, essv11526985, essv11527001, essv11526961, essv11527033, essv11526996, essv11527028, essv11527144, essv11527131, essv11527016, essv11527021, essv11527071, essv11527030, essv11527051, essv11526990, essv11527072, essv11527083, essv11527017, essv11527003, essv11526983, essv11526998, essv11527048, essv11527106, essv11527135, essv11527124, essv11527169, essv11527162, essv11526959, essv11526986, essv11526939, essv11527068, essv11527063, essv11526947, essv11526960, essv11527158, essv11526993, essv11527148, essv11527133, essv11527116, essv11526954, essv11527159, essv11527105, essv11527018, essv11527042, essv11527110, essv11527145, essv11527084, essv11527056, essv11526941, essv11526964, essv11526943, essv11527043, essv11527090, essv11526975, essv11527011, essv11526980, essv11527070, essv11527121, essv11526958, essv11527107, essv11527149, essv11527123, essv11527077, essv11527130, essv11527076, essv11527035, essv11526948, essv11526991, essv11527142, essv11527012, essv11527031, essv11527104, essv11527086, essv11527054, essv11527025, essv11527091, essv11527044, essv11527034, essv11526999, essv11527075, essv11527059, essv11526949, essv11527062, essv11527157, essv11527153, essv11527118, essv11527023, essv11527150, essv11527067, essv11527102, essv11526978, essv11527139, essv11527079, essv11527038, essv11527161, essv11527041, essv11527064, essv11526974, essv11527117, essv11527047, essv11527066, essv11527053, essv11527113, essv11527120, essv11527037, essv11526955, essv11527140, essv11527009, essv11527094, essv11526979, essv11527020, essv11527006, essv11527132, essv11527078, essv11527114, essv11527160, essv11527112, essv11527010, essv11526937, essv11527109, essv11526957, essv11527055, essv11527165, essv11527167, essv11526976, essv11527119, essv11527164, essv11527156, essv11526969, essv11526989, essv11527099, essv11527040, essv11527095, essv11527004, essv11526982, essv11527129, essv11527154, essv11526956, essv11526981, essv11527007, essv11527013, essv11526987, essv11527136, essv11527152, essv11527050, essv11527002, essv11527128, essv11526962, essv11526936, essv11527085, essv11527126, essv11527168, essv11526997, essv11527073, essv11527143, essv11527125, essv11527093, essv11527061, essv11527049, essv11527108, essv11527087, essv11526942, essv11527008, essv11527060, essv11526992, essv11527052, essv11527029, essv11527166, essv11527115, essv11527057, essv11527045, essv11526950
SamplesNA20761, NA20339, HG01173, HG00304, HG00143, HG03228, NA20783, HG03111, HG02231, HG00151, HG02215, HG00737, HG01518, NA20517, HG00261, HG00097, NA12750, NA18969, NA18627, HG00337, HG00271, NA12813, HG03782, HG02792, HG01506, HG01350, HG00356, NA21135, HG00272, HG01277, HG01167, NA21130, NA20774, NA20756, HG00129, NA20822, NA11918, NA12762, HG02733, HG01365, HG00334, NA20287, HG02603, HG00158, HG02131, HG00130, NA20759, NA20539, NA19923, NA12275, HG01069, NA20518, HG01519, NA11994, NA19235, HG01284, NA21129, HG00326, NA20757, HG00253, NA21105, NA20318, NA19027, NA20904, NA12760, NA12489, HG01122, HG00332, HG00245, HG01789, NA18933, NA20760, HG01882, NA19717, HG01345, NA20832, HG01323, HG01607, HG01630, HG03967, HG03730, NA19042, HG00331, HG03802, HG01101, HG03969, HG01474, HG02256, HG00240, NA12546, HG01107, HG03694, NA20872, HG00382, HG00383, NA19434, HG01131, HG01272, NA20530, HG01113, HG00116, NA12763, HG00339, HG03600, HG02700, NA21093, NA18876, NA20758, HG03925, HG02855, NA19316, NA18624, NA12890, HG01509, HG03955, NA19676, HG03864, HG01516, HG03096, HG01413, HG00235, HG02652, HG01098, HG00121, HG01303, NA12814, HG02298, HG01348, HG03767, NA20531, HG02852, NA20532, NA12045, HG00318, HG02476, HG00150, NA20507, HG02734, NA12400, NA12155, NA12413, NA19792, HG00251, HG04022, HG01064, HG02087, HG01710, NA19131, HG00736, HG03105, NA20540, NA12287, HG01510, HG02786, HG02489, NA19922, HG02493, HG02512, HG01628, HG01495, HG00262, NA20340, HG01176, NA12889, HG02420, HG00338, HG00159, NA20764, HG03267, NA19445, HG03583, HG00739, HG03709, HG02009, HG00133, HG01139, HG00149, HG00183, NA19707, HG00596, NA20524, HG02236, NA20809, HG00475, HG01612, HG01088, NA18516, HG04019, NA20126, NA19658, HG02470, NA20770, HG03021, HG01092, HG01073, HG01619, HG01414, HG00844, HG04054, HG03660, HG01197, NA20881, HG03634, HG01705, HG04152, HG01679, NA06985, NA19756, HG01286, HG01204, HG01530, HG00128, NA20765, HG04219, NA12716, NA11881, HG01190, NA19108, HG01954, HG03367, HG02223, NA20351, HG01974, NA07037, HG00125, HG01770, HG04015, HG02238, HG01089, NA20763, HG01097, HG03698, HG01695, HG01061, HG01747
Known GenesPTPN13
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3601263
Frequency
Sample Size2504
Observed Gain0
Observed Loss235
Observed Complex0
Frequencyn/a


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