A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3596164



Internal ID6983481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:52993090..53004904hg38UCSC Ensembl
Innerchr3:52993090..53004904hg38UCSC Ensembl
Outerchr3:52992780..53005228hg38UCSC Ensembl
chr3:53027106..53038920hg19UCSC Ensembl
Innerchr3:53027106..53038920hg19UCSC Ensembl
Outerchr3:53026796..53039244hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg3811815
hg1911815
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11013922, essv11013780, essv11014030, essv11013964, essv11013791, essv11013956, essv11013969, essv11013846, essv11013967, essv11014020, essv11014033, essv11013999, essv11013907, essv11013859, essv11013842, essv11013995, essv11013940, essv11013974, essv11013947, essv11013800, essv11013832, essv11013817, essv11013915, essv11013889, essv11013973, essv11014002, essv11013890, essv11013962, essv11013987, essv11013994, essv11013885, essv11014008, essv11013862, essv11013976, essv11013849, essv11013993, essv11013982, essv11013794, essv11013861, essv11013845, essv11013965, essv11014021, essv11013824, essv11013912, essv11013989, essv11013893, essv11013864, essv11013904, essv11013897, essv11013944, essv11013933, essv11013949, essv11013876, essv11013991, essv11013972, essv11013801, essv11013959, essv11014028, essv11013777, essv11013834, essv11013789, essv11014032, essv11013978, essv11013926, essv11014036, essv11013971, essv11013938, essv11013984, essv11013880, essv11013858, essv11013863, essv11014000, essv11013916, essv11013857, essv11014001, essv11013966, essv11013951, essv11013813, essv11014038, essv11013812, essv11013821, essv11013819, essv11013913, essv11013877, essv11013806, essv11013946, essv11013837, essv11013955, essv11013790, essv11013954, essv11013961, essv11014010, essv11013811, essv11013986, essv11013997, essv11013941, essv11013879, essv11013802, essv11013850, essv11013787, essv11013815, essv11013927, essv11013988, essv11013996, essv11013853, essv11013875, essv11013881, essv11013852, essv11014019, essv11013781, essv11013870, essv11014027, essv11013851, essv11013835, essv11013980, essv11013797, essv11013924, essv11013848, essv11013936, essv11013939, essv11013867, essv11013945, essv11013829, essv11013983, essv11013935, essv11013873, essv11013805, essv11013784, essv11014024, essv11014011, essv11013827, essv11014015, essv11013990, essv11013882, essv11014018, essv11013792, essv11013992, essv11013979, essv11014016, essv11013843, essv11013918, essv11013937, essv11014007, essv11013958, essv11013932, essv11014037, essv11013906, essv11013871, essv11013899, essv11013828, essv11013868, essv11013902, essv11013779, essv11014025, essv11014023, essv11013950, essv11013943, essv11013860, essv11013985, essv11013928, essv11013878, essv11013799, essv11013825, essv11013798, essv11013948, essv11013892, essv11013869, essv11013919, essv11013795, essv11013931, essv11013925, essv11013952, essv11013865, essv11013838, essv11014022, essv11013896, essv11013836, essv11014029, essv11013854, essv11013814, essv11014009, essv11013856, essv11013921, essv11013957, essv11013883, essv11013830, essv11013826, essv11013788, essv11013841, essv11013977, essv11013911, essv11013808, essv11013807, essv11014017, essv11013963, essv11013840, essv11013888, essv11013816, essv11013804, essv11014006, essv11013895, essv11013786, essv11013894, essv11014004, essv11013818, essv11014034, essv11013975, essv11013929, essv11013833, essv11013970, essv11013891, essv11013783, essv11013914, essv11014026, essv11014003, essv11013923, essv11014039, essv11013803, essv11013905, essv11013809, essv11014013, essv11013934, essv11013903, essv11013908, essv11013981, essv11013930, essv11013796, essv11013942, essv11013898, essv11013866, essv11013901, essv11013886, essv11013831, essv11013782, essv11013884, essv11013785, essv11014031, essv11013998, essv11013872, essv11013847, essv11013960, essv11013917, essv11013910, essv11013900, essv11013855, essv11013887, essv11013810, essv11014012, essv11013874, essv11013920, essv11013844, essv11013968, essv11013823, essv11013953, essv11013778, essv11014005, essv11013793, essv11014014, essv11013820, essv11013839, essv11013822, essv11013909, essv11014035
SamplesHG01485, HG01412, NA20529, HG00143, NA18621, HG04060, HG01326, NA18979, HG00457, HG00151, HG02691, NA12340, NA20864, HG00737, HG02384, HG02356, HG01704, NA18633, HG00097, HG03999, NA20806, HG01513, HG04059, HG03603, NA19089, HG01506, HG01350, HG01325, NA18940, HG03770, HG02016, NA18597, HG03943, NA20798, HG03808, HG02156, HG00599, HG02383, NA20795, NA18558, NA18574, HG04182, HG01761, HG02054, HG01528, HG00243, HG00158, HG00130, HG03817, HG02252, HG01080, NA20518, NA11932, NA11994, HG00534, HG04020, HG01844, NA18557, HG01048, HG01626, HG01275, HG03585, NA21105, NA19789, NA19908, NA18747, HG00731, HG03861, HG00266, HG01435, HG01200, HG01095, HG04195, HG02253, NA19717, HG01768, HG01498, HG01323, HG04177, HG01607, HG00551, NA18548, HG03967, HG03829, NA20903, HG01762, HG00479, NA11893, NA19750, HG02141, NA20856, NA19752, HG01497, HG04063, NA19761, HG03914, HG00146, HG02256, NA19682, NA12144, NA12778, HG04176, HG02219, HG01697, HG01988, NA12546, HG04093, HG03694, NA18632, HG03848, HG03708, HG01874, HG01396, NA20530, HG01375, HG00473, NA20778, HG00237, NA19679, NA21095, NA20544, HG01798, NA19083, HG03973, HG02133, HG01861, HG01086, NA20897, HG01577, HG03642, HG01935, HG04014, NA19716, NA21093, NA18609, HG02182, NA20502, HG01807, NA12890, HG01776, NA20908, HG01786, HG01618, NA11832, HG00096, HG04212, HG01060, HG01413, HG00592, HG01098, NA19794, HG01303, HG01438, HG01359, HG03237, HG01079, NA20531, HG03607, NA19795, NA20321, NA20805, HG01456, NA12058, HG03792, HG00341, HG02285, NA07357, HG01924, HG00622, HG03235, NA20796, NA12812, HG01070, HG00251, HG01953, HG01682, HG04022, HG01064, HG01488, NA20586, HG00458, HG00330, NA20769, HG01816, HG00736, NA19649, HG00346, NA12287, NA20513, HG03851, HG00120, HG00379, HG03968, NA20819, HG00262, NA19719, HG01072, HG04106, HG03777, HG01405, NA19725, NA18640, NA18638, HG00264, HG01312, HG00133, HG01360, HG00596, HG02025, HG00653, NA18956, HG04107, NA19913, NA19982, HG02102, HG01852, HG01808, HG01049, HG00708, NA18757, HG01092, HG01615, HG01392, HG03871, HG00956, HG01504, NA20538, HG04155, HG01791, HG03740, HG00525, HG00157, HG01705, NA06985, HG01865, HG03774, HG01596, HG01444, HG03866, HG02282, NA20801, HG03790, NA19834, NA19749, HG01800, HG01253, HG01623, HG01598, HG03488, HG01951, HG03846, HG00256, NA21126, HG01862, HG01606, HG01055, HG04209, HG03998, NA20528, HG01869, HG01112, HG00554, HG01191
Known GenesSFMBT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3596164
Frequency
Sample Size2504
Observed Gain0
Observed Loss263
Observed Complex0
Frequencyn/a


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