A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3648079



Internal ID6688130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:50013481..50024531hg38UCSC Ensembl
chr22:50451910..50462960hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg3811051
hg1911051
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv849e214
Supporting Variantsessv16461822, essv16462204, essv16461939, essv16461996, essv16462187, essv16462182, essv16461911, essv16461918, essv16461823, essv16462207, essv16461978, essv16461970, essv16461971, essv16461884, essv16462203, essv16462094, essv16462095, essv16462057, essv16461877, essv16461913, essv16461988, essv16461854, essv16462010, essv16462160, essv16462072, essv16461831, essv16462165, essv16461819, essv16462148, essv16461880, essv16462147, essv16462144, essv16461878, essv16461958, essv16461921, essv16461864, essv16461833, essv16461798, essv16461999, essv16461792, essv16462016, essv16461997, essv16461846, essv16461881, essv16462192, essv16461838, essv16461981, essv16462135, essv16461959, essv16461960, essv16461812, essv16461875, essv16462209, essv16462031, essv16461883, essv16461826, essv16461992, essv16462114, essv16461799, essv16462092, essv16462150, essv16462145, essv16461828, essv16461871, essv16461855, essv16461827, essv16462154, essv16461849, essv16462138, essv16462040, essv16462081, essv16461909, essv16461845, essv16461977, essv16461841, essv16461836, essv16462136, essv16462185, essv16461897, essv16462180, essv16461917, essv16462171, essv16462110, essv16461804, essv16462123, essv16462052, essv16462156, essv16461844, essv16462146, essv16462043, essv16462054, essv16462047, essv16462196, essv16462121, essv16462032, essv16462089, essv16462200, essv16461872, essv16462084, essv16461848, essv16462188, essv16461847, essv16462090, essv16461887, essv16461894, essv16462039, essv16462044, essv16462037, essv16462014, essv16461929, essv16461993, essv16461902, essv16462190, essv16461866, essv16461925, essv16461966, essv16461860, essv16462155, essv16462023, essv16462184, essv16461906, essv16461825, essv16462101, essv16461946, essv16461991, essv16461931, essv16461840, essv16462177, essv16461968, essv16462077, essv16461900, essv16462003, essv16462163, essv16461932, essv16461863, essv16462120, essv16461979, essv16461940, essv16461813, essv16462108, essv16461989, essv16461982, essv16462124, essv16462070, essv16462111, essv16462210, essv16462215, essv16461795, essv16462141, essv16462197, essv16462126, essv16462004, essv16461805, essv16462198, essv16461873, essv16462025, essv16461850, essv16461922, essv16462175, essv16461852, essv16462061, essv16461892, essv16462063, essv16461903, essv16462191, essv16462066, essv16461933, essv16462050, essv16461876, essv16461956, essv16462134, essv16461912, essv16461954, essv16462045, essv16461972, essv16461973, essv16462085, essv16462051, essv16461882, essv16462099, essv16461899, essv16462015, essv16461791, essv16462074, essv16462151, essv16462029, essv16461859, essv16461936, essv16461987, essv16462088, essv16461994, essv16462011, essv16461986, essv16462000, essv16462201, essv16461907, essv16461944, essv16462178, essv16462112, essv16461934, essv16461858, essv16462046, essv16461974, essv16461953, essv16461809, essv16462086, essv16461957, essv16461927, essv16461923, essv16461869, essv16461793, essv16461985, essv16462161, essv16462194, essv16462060, essv16461961, essv16462214, essv16462181, essv16461861, essv16462152, essv16461800, essv16461830, essv16461938, essv16461951, essv16461967, essv16462173, essv16461874, essv16462212, essv16462142, essv16462125, essv16461868, essv16461834, essv16462202, essv16461817, essv16461926, essv16461816, essv16461808, essv16461904, essv16462208, essv16462012, essv16461803, essv16462100, essv16461950, essv16461891, essv16462041, essv16462098, essv16462139, essv16461908, essv16461919, essv16462129, essv16461949, essv16462128, essv16462195, essv16461865, essv16462022, essv16461898, essv16462073, essv16461885, essv16461901, essv16462024, essv16462019, essv16461984, essv16461851, essv16461889, essv16462169, essv16461820, essv16461962, essv16461832, essv16461995, essv16462027, essv16462122, essv16462166, essv16461920, essv16462140, essv16461814, essv16462082, essv16462118, essv16462036, essv16462130, essv16461797, essv16462055, essv16462065, essv16462058, essv16461856, essv16461895, essv16461857, essv16461818, essv16462116, essv16462075, essv16461896, essv16461935, essv16461867, essv16462103, essv16462168, essv16461942, essv16461870, essv16461811, essv16462079, essv16462205, essv16461886, essv16462053, essv16462038, essv16462059, essv16461990, essv16462172, essv16461964, essv16462017, essv16461839, essv16462105, essv16462179, essv16461807, essv16461976, essv16462186, essv16462133, essv16461998, essv16462008, essv16462157, essv16462127, essv16461963, essv16462164, essv16461835, essv16461829, essv16461810, essv16462158, essv16461952, essv16462096, essv16462080, essv16462030, essv16461943, essv16462033, essv16462028, essv16462068, essv16462104, essv16462064, essv16462071, essv16461796, essv16461890, essv16462149, essv16462132, essv16462093, essv16462113, essv16461853, essv16462117, essv16461930, essv16462159, essv16461893, essv16461910, essv16461915, essv16462001, essv16461983, essv16462067, essv16462035, essv16462097, essv16462107, essv16462143, essv16461905, essv16462102, essv16462109, essv16462018, essv16461975, essv16462076, essv16461879, essv16461947, essv16461837, essv16461928, essv16462020, essv16462170, essv16462005, essv16461941, essv16461969, essv16461802, essv16462087, essv16461843, essv16461914, essv16461815, essv16462062, essv16462131, essv16462115, essv16462091, essv16462183, essv16462162, essv16461888, essv16462174, essv16462009, essv16462049, essv16461937, essv16461824, essv16461806, essv16462176, essv16461955, essv16461980, essv16462119, essv16462189, essv16461821, essv16462034, essv16461965, essv16462007, essv16461801, essv16461948, essv16462137, essv16462042, essv16461842, essv16462206, essv16462211, essv16462106, essv16461945, essv16462193, essv16462006, essv16462167, essv16462216, essv16462213, essv16462153, essv16462013, essv16461794, essv16462026, essv16462078, essv16461924, essv16462199, essv16462048, essv16461916, essv16462083, essv16462021, essv16462069, essv16462002, essv16462056, essv16461862
SamplesNA20511, NA18745, HG01985, NA20339, HG00442, HG01402, HG03378, NA18647, HG03111, HG00766, HG00257, NA18979, HG00457, HG02836, NA20802, HG02012, NA18639, HG03298, NA20298, NA18878, HG02050, NA18530, HG03126, HG03515, NA18616, HG03193, NA20863, HG00261, NA18602, HG00337, HG00271, NA19446, NA18563, HG03603, NA19089, NA21135, HG00272, HG03016, NA18597, HG01702, HG02140, NA20320, HG01277, NA21130, NA19307, HG03091, HG02146, HG01766, NA18567, NA18558, HG00129, NA18547, HG03604, HG02860, NA18574, HG02301, NA18582, HG02054, HG00355, NA21108, HG03224, HG01840, HG01372, HG00451, HG03917, NA19079, HG02981, HG02278, HG02131, HG00139, HG00130, NA19923, HG03619, NA19041, HG00867, HG00335, NA20775, HG00113, HG01849, NA18748, HG02082, HG01284, HG01844, NA18557, HG02260, NA20355, HG03073, HG01626, NA19025, NA20757, HG00253, NA21105, NA20318, HG02134, NA18645, NA12777, NA18605, NA18747, NA20800, HG00443, HG00268, NA19091, NA18525, NA19006, HG00332, HG03088, HG02380, NA21119, NA19086, NA19984, HG01684, HG04195, NA20760, HG01882, HG02084, HG00556, HG01845, HG01768, HG01142, HG01345, HG02508, HG01675, HG04177, HG01029, NA18548, NA20867, NA18573, NA19461, HG00250, HG00479, HG00350, NA20581, NA19042, NA21112, HG02141, HG02259, NA18532, HG02881, HG01130, NA19752, HG03024, HG02979, NA18555, HG01680, HG00099, HG04176, NA18570, HG01625, HG00376, HG01896, HG03064, HG00407, HG00382, NA18632, NA19652, HG02089, NA21117, NA19440, NA19309, HG00383, NA18564, HG03708, HG02088, HG01678, HG01131, HG00353, HG02220, HG00580, HG01685, HG03920, NA19090, NA12873, HG02391, NA18865, HG02232, HG02982, HG00473, NA20792, HG03304, HG01620, NA19083, HG02137, NA18615, NA18610, HG03103, HG01861, HG01086, HG00614, HG00478, NA18631, HG02401, HG00381, HG00259, HG01804, HG03279, HG01846, HG03063, HG03060, NA21133, NA18636, HG01799, HG01600, HG01269, HG02013, NA18876, NA19080, HG04171, HG03077, HG03470, HG01914, HG01794, HG02947, NA19430, NA18957, NA19011, NA18624, HG02351, NA18612, HG03303, HG01805, HG03166, NA19431, NA18577, HG03265, NA18620, HG02760, NA20762, HG01413, NA19700, HG02250, HG00536, NA19794, HG03163, HG01348, HG00524, HG01860, NA20274, HG04194, NA18561, NA19704, HG01280, NA19734, NA18599, HG02061, NA18877, NA18603, NA20321, HG01686, HG03190, HG02277, HG00452, NA18596, NA18625, HG04164, NA18606, HG03297, HG02271, HG00341, HG03139, NA18526, NA19314, HG02285, HG01694, HG03095, HG03074, HG03082, NA19076, NA20796, NA18550, HG03086, HG00251, HG02811, HG01682, NA18595, HG02485, HG02087, HG00448, NA18635, HG04144, HG01459, HG00458, HG00330, NA20769, HG01843, HG02130, HG01816, HG03105, HG00851, NA19088, HG01982, HG03079, HG03189, HG02067, HG02003, HG01281, HG01767, HG01369, HG01046, NA18617, HG00422, HG01673, NA21107, NA12815, HG00309, NA19189, HG03225, HG02104, NA20764, NA18864, HG03583, NA18640, HG02882, HG00419, NA19451, NA18638, HG01699, HG00260, NA21106, NA18614, HG00543, NA18544, HG03054, HG00629, HG02136, HG01841, HG00982, HG02233, HG01797, HG01104, NA19077, HG00428, NA19462, NA19347, HG01344, HG02397, HG00475, HG04162, NA18939, NA18637, HG01119, HG02968, NA20767, HG02497, HG01808, NA21116, NA18757, NA18566, HG01619, HG03382, HG00956, HG00844, HG03202, NA19031, HG00525, NA19740, NA19320, HG02081, HG04152, HG01679, HG03354, HG00445, HG01990, HG02484, HG01700, HG00128, NA19035, NA18546, NA18608, NA19308, NA21113, HG00476, HG04188, NA18543, NA18559, NA19735, HG02983, HG02064, NA19435, NA19037, NA20351, HG03127, NA19310, NA18643, HG02139, NA12874, HG00256, NA19475, NA19078, HG01432, HG00446, HG01917, NA20868, HG02238, NA20582, NA19472, HG01556, HG01028, HG00421, HG00378, NA18987, HG02032, HG02053, HG02396, HG02392, HG01085, HG02239, HG00234, NA19096, NA18552, HG01105, HG02051, HG00252, HG01377, HG03611, HG00345, NA20763, HG04161, NA18549, HG02006, HG01923, NA18622, HG01695, HG00978, HG00437, NA18562, HG02060
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3648079
Frequency
Sample Size2504
Observed Gain426
Observed Loss0
Observed Complex0
Frequencyn/a


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