A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3625382



Internal ID6665529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:11854026..11854992hg38UCSC Ensembl
Innerchr11:11854027..11854992hg38UCSC Ensembl
Outerchr11:11854026..11854993hg38UCSC Ensembl
chr11:11875573..11876539hg19UCSC Ensembl
Innerchr11:11875574..11876539hg19UCSC Ensembl
Outerchr11:11875573..11876540hg19UCSC Ensembl
Cytoband11p15.3
Allele length
AssemblyAllele length
hg38967
hg19967
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14031007, essv14031234, essv14031153, essv14031009, essv14031184, essv14031331, essv14031302, essv14031114, essv14031071, essv14031088, essv14031060, essv14031290, essv14031265, essv14030886, essv14030943, essv14031044, essv14031155, essv14031328, essv14031086, essv14031039, essv14030979, essv14031250, essv14030961, essv14031307, essv14030908, essv14030920, essv14031006, essv14031061, essv14031292, essv14030860, essv14030848, essv14030876, essv14031317, essv14030971, essv14031151, essv14031100, essv14030896, essv14031145, essv14031095, essv14031010, essv14030870, essv14031049, essv14030894, essv14031186, essv14030966, essv14031215, essv14031213, essv14031180, essv14031056, essv14031181, essv14031330, essv14030965, essv14031168, essv14030853, essv14031227, essv14031077, essv14031130, essv14030911, essv14031136, essv14030875, essv14031065, essv14031040, essv14031309, essv14030969, essv14030910, essv14031104, essv14031023, essv14031018, essv14030900, essv14031133, essv14030854, essv14031333, essv14031338, essv14031175, essv14031275, essv14031160, essv14030861, essv14031261, essv14031082, essv14030912, essv14030851, essv14031016, essv14031230, essv14031229, essv14031170, essv14031211, essv14031301, essv14031073, essv14031241, essv14030994, essv14031075, essv14030926, essv14031091, essv14031271, essv14031142, essv14030993, essv14030904, essv14031325, essv14030902, essv14031167, essv14031252, essv14031099, essv14031260, essv14031103, essv14031015, essv14030895, essv14031069, essv14030974, essv14031014, essv14030846, essv14031152, essv14031293, essv14030960, essv14031125, essv14031087, essv14031336, essv14031022, essv14030985, essv14030856, essv14030921, essv14031253, essv14031267, essv14031247, essv14030992, essv14031131, essv14030839, essv14030874, essv14030952, essv14030867, essv14031064, essv14031067, essv14031177, essv14030847, essv14031174, essv14031264, essv14031176, essv14031206, essv14031119, essv14030950, essv14031233, essv14031122, essv14031028, essv14030951, essv14030840, essv14030850, essv14030957, essv14031169, essv14031137, essv14031294, essv14031059, essv14031239, essv14031202, essv14031021, essv14031102, essv14030916, essv14031257, essv14030995, essv14031221, essv14031078, essv14030962, essv14031031, essv14031094, essv14030953, essv14030999, essv14031192, essv14031043, essv14031041, essv14030879, essv14031287, essv14031117, essv14030978, essv14030938, essv14031323, essv14031146, essv14030968, essv14031106, essv14031171, essv14031183, essv14031124, essv14031154, essv14030988, essv14031054, essv14031084, essv14031025, essv14031150, essv14031116, essv14030932, essv14030940, essv14030967, essv14031048, essv14031263, essv14030958, essv14031279, essv14031278, essv14031342, essv14030872, essv14031163, essv14030924, essv14030893, essv14030905, essv14031148, essv14031017, essv14030986, essv14030844, essv14031295, essv14030928, essv14031340, essv14030930, essv14031200, essv14030977, essv14031191, essv14031300, essv14031111, essv14031109, essv14031052, essv14030899, essv14030929, essv14030925, essv14031118, essv14031096, essv14031187, essv14030873, essv14031339, essv14031057, essv14031012, essv14030885, essv14031210, essv14031098, essv14030989, essv14031107, essv14031245, essv14030922, essv14031093, essv14031026, essv14030901, essv14030954, essv14030914, essv14030897, essv14031002, essv14031286, essv14031036, essv14031138, essv14031188, essv14031337, essv14030843, essv14031332, essv14031144, essv14031090, essv14031079, essv14030964, essv14031288, essv14031198, essv14031042, essv14030871, essv14031196, essv14031305, essv14031024, essv14031030, essv14030942, essv14031258, essv14031289, essv14031240, essv14031276, essv14031108, essv14031318, essv14031121, essv14031045, essv14031296, essv14031303, essv14031284, essv14031208, essv14031097, essv14031147, essv14031004, essv14030983, essv14031270, essv14030949, essv14031285, essv14031281, essv14030834, essv14031050, essv14031074, essv14031126, essv14030863, essv14030877, essv14031051, essv14030865, essv14030859, essv14030869, essv14030841, essv14031205, essv14031068, essv14031334, essv14031269, essv14031085, essv14030934, essv14030981, essv14030996, essv14030909, essv14030959, essv14031256, essv14031308, essv14031134, essv14031235, essv14031089, essv14031166, essv14031251, essv14031165, essv14031120, essv14030883, essv14030998, essv14031173, essv14031194, essv14031273, essv14031262, essv14030866, essv14031038, essv14031135, essv14030892, essv14031304, essv14031013, essv14031238, essv14030976, essv14030918, essv14031327, essv14031283, essv14031159, essv14031231, essv14031037, essv14030939, essv14031224, essv14031110, essv14030832, essv14031008, essv14031291, essv14031329, essv14031216, essv14031299, essv14031220, essv14030947, essv14030913, essv14031140, essv14030944, essv14030858, essv14031310, essv14031182, essv14031034, essv14031316, essv14030852, essv14031259, essv14031320, essv14031225, essv14031272, essv14031158, essv14031139, essv14031128, essv14031217, essv14031249, essv14031190, essv14030849, essv14030975, essv14030933, essv14031335, essv14030973, essv14031162, essv14031083, essv14031189, essv14031204, essv14031322, essv14031266, essv14031197, essv14031058, essv14030862, essv14031115, essv14031105, essv14030889, essv14031312, essv14031149, essv14030903, essv14030945, essv14031199, essv14031246, essv14030963, essv14031228, essv14031141, essv14031280, essv14031274, essv14030955, essv14030898, essv14031161, essv14031127, essv14031172, essv14031226, essv14031219, essv14031223, essv14031195, essv14030980, essv14031081, essv14030842, essv14031000, essv14031157, essv14030857, essv14030835, essv14031218, essv14030972, essv14031255, essv14030845, essv14031001, essv14031232, essv14031164, essv14030987, essv14031143, essv14030890, essv14031027, essv14030970, essv14031019, essv14031306, essv14030891, essv14031297, essv14030931, essv14031092, essv14030936, essv14030837, essv14031063, essv14030990, essv14031319, essv14031112, essv14030878, essv14031324, essv14031185, essv14031203, essv14030948, essv14031055, essv14031080, essv14031072, essv14031207, essv14030855, essv14030836, essv14030997, essv14030868, essv14030937, essv14030935, essv14030888, essv14031033, essv14031248, essv14031062, essv14031179, essv14030907, essv14031032, essv14030887, essv14031315, essv14031268, essv14031277, essv14031113, essv14031070, essv14031209, essv14031132, essv14031314, essv14031212, essv14031011, essv14030915, essv14031282, essv14030880, essv14031020, essv14030833, essv14030946, essv14031101, essv14030906, essv14031123, essv14030917, essv14031243, essv14030838, essv14031222, essv14030982, essv14031035, essv14031254, essv14030941, essv14031046, essv14031029, essv14030884, essv14031066, essv14031053, essv14031242, essv14031076, essv14031311, essv14031201, essv14031003, essv14030881, essv14031193, essv14031321, essv14031237, essv14031178, essv14030831, essv14031129, essv14030919, essv14031156, essv14031244, essv14031047, essv14030923, essv14030984, essv14030956, essv14030864, essv14031214, essv14031313, essv14031298, essv14031005, essv14030882, essv14031326, essv14031341, essv14031236, essv14030927, essv14030991
SamplesHG00189, NA20529, HG00608, NA18621, NA18947, HG00384, NA18647, NA11920, HG02231, NA18979, HG00151, NA18528, HG00729, HG02691, HG03616, HG03018, NA21137, HG02154, NA20806, NA20894, NA12813, HG03837, HG00717, HG01873, HG00138, HG03645, HG01506, HG00356, HG00589, HG00122, NA20798, NA18995, HG04206, HG02595, NA18558, NA18574, HG03874, NA18582, NA20768, HG03917, NA18949, HG00130, NA20759, HG04183, HG03910, HG00632, NA20812, HG02082, HG04047, NA20757, HG03585, NA20515, NA20755, HG00137, NA20904, NA12760, NA12489, NA20800, HG03685, HG03718, HG03907, NA12878, NA20521, HG01684, NA20810, NA20760, HG02084, NA19081, NA20519, HG01796, HG00692, HG01047, HG01762, HG00404, NA12829, HG00331, HG02121, HG01613, NA19750, NA06989, HG01130, NA19059, HG01334, NA19452, HG00099, HG02219, NA19625, NA18593, HG02127, HG00376, HG01811, HG03934, HG03720, HG01858, NA20799, HG03848, NA18533, HG01597, HG00336, NA21144, NA18564, HG02088, HG02355, HG01874, NA20520, HG01174, HG03702, HG02232, HG01620, HG01798, NA19083, NA18943, NA20281, HG00662, HG03973, HG02771, HG01785, NA20897, HG00513, NA18631, HG00381, HG01804, HG02079, HG03716, HG00112, HG02182, NA20826, NA20503, HG00595, HG02351, NA20827, HG03867, HG01776, NA19074, HG00581, NA11832, NA20762, HG00626, HG03812, HG01746, HG00235, NA19648, HG00592, HG00121, HG03965, HG03960, NA18592, HG01359, HG01348, HG02702, HG01079, HG00100, HG04194, NA18561, HG04202, NA20813, NA18603, HG02360, HG00699, NA12004, HG03772, HG02394, NA20808, HG00341, NA20507, HG01341, NA19076, HG01503, NA12812, HG00109, HG02407, HG04144, HG02620, HG00330, NA20769, HG01843, HG01599, HG00634, NA18942, HG00610, HG04131, HG01848, NA20513, HG01110, HG03594, NA19922, HG01134, HG00277, NA19651, HG03986, HG00106, HG02224, HG01170, HG00262, HG01767, HG01046, HG03624, HG01176, NA19087, HG03750, HG00178, NA18973, HG01603, HG01524, NA19007, HG00149, HG03780, HG02166, NA19082, NA19707, NA20787, HG03787, HG01384, NA18644, NA20536, HG01612, HG01810, NA18976, HG01094, HG01619, HG01414, NA20859, HG00110, HG02048, NA20881, HG03740, HG02725, HG01679, NA20828, HG03991, NA20542, HG00445, HG01990, HG01700, NA21143, NA20296, HG00119, NA18535, NA18543, NA18559, HG04239, HG00375, HG01623, HG00631, HG01205, NA19786, HG02181, NA19759, NA19078, HG00409, HG02238, HG01085, HG03998, HG00252, NA18984, HG00472, NA19004, HG00437, HG01747, HG02658, NA12842, HG00143, NA12286, HG01624, HG00671, NA10851, HG00559, HG00358, HG02784, NA20878, HG02029, NA20752, HG01806, HG00115, NA20517, HG00097, NA20771, NA12399, NA18627, HG00271, HG03782, HG00663, NA20814, NA18563, HG00641, NA21135, HG00272, HG01702, HG00674, HG00599, HG00238, NA07347, HG02733, HG00451, HG03887, NA12275, NA20518, NA21109, HG00325, HG02190, HG00160, NA18990, HG01844, HG01198, HG01048, HG01709, HG00253, HG02164, NA20753, HG01124, NA18645, NA19091, NA19670, HG00332, HG00557, NA20885, HG00732, HG00132, HG00556, HG02887, HG00583, NA18579, HG02522, HG01345, HG01323, HG01675, HG01607, HG00324, HG00651, NA20581, NA20856, HG01101, HG03969, NA18555, HG01474, NA18963, HG01680, HG00240, NA12546, NA18541, NA19012, HG03653, NA12043, NA18953, HG00258, HG00265, HG00625, NA19747, HG00353, HG01878, HG01396, NA20778, HG04099, HG03870, HG01113, HG01137, NA19783, NA18610, HG00620, HG00339, HG02371, HG03642, HG00259, HG03977, HG00342, HG01302, NA18636, NA20786, HG01600, NA19080, HG03925, HG01468, HG02681, HG02774, HG02020, HG00171, NA20585, NA19063, NA19346, HG04212, HG03800, HG03857, HG02610, HG02652, HG01098, HG02250, NA20543, HG00351, HG03237, NA20274, HG03767, HG03738, HG02337, HG03607, NA20532, HG00640, HG01465, NA18545, HG03668, HG00364, NA20805, HG00566, HG00177, HG03944, HG03836, NA07357, HG01694, NA19792, NA19005, HG01488, HG02155, HG03873, NA19088, HG01510, HG01668, NA18964, NA20910, HG04214, HG01455, HG00379, NA20819, HG01628, HG01281, HG01369, NA18986, NA20869, HG00309, NA20811, HG02073, HG00159, NA21114, NA20533, HG04029, NA18954, HG00739, HG00313, HG01183, HG00290, HG03844, HG01841, HG02233, HG00145, HG03007, HG02152, HG01104, NA20505, HG01271, HG02397, HG04107, HG00436, HG02390, HG00598, NA20126, HG01808, NA18630, HG01447, HG01390, HG01615, HG01073, HG00273, HG01512, NA20538, HG02086, NA19338, HG02031, HG01286, HG03755, HG03774, NA18634, HG01596, NA20534, NA18546, NA21087, NA20522, HG03833, HG03778, NA18961, HG02696, HG02682, HG00357, NA18941, HG02651, HG00623, NA19773, HG03850, NA20516, NA19085, HG02398, HG01770, NA18971, HG02230, HG01556, NA19060, HG02699, HG02654, HG00656, NA18994, HG03916, HG00186, HG01781, HG02186, HG03882, HG04056, HG01869, HG03698, HG02006, HG01695, HG00978, HG00362, NA12776, HG02060, HG01608
Known GenesUSP47
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3625382
Frequency
Sample Size2504
Observed Gain0
Observed Loss512
Observed Complex0
Frequencyn/a


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