A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630769



Internal ID6670903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:111858628..111859363hg38UCSC Ensembl
Innerchr12:111858628..111859363hg38UCSC Ensembl
Outerchr12:111858628..111859363hg38UCSC Ensembl
chr12:112296432..112297167hg19UCSC Ensembl
Innerchr12:112296432..112297167hg19UCSC Ensembl
Outerchr12:112296432..112297167hg19UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg38736
hg19736
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14605094, essv14604847, essv14604961, essv14604783, essv14604483, essv14604746, essv14605073, essv14604544, essv14604995, essv14604700, essv14605092, essv14604513, essv14604509, essv14604566, essv14604955, essv14604981, essv14604636, essv14604588, essv14604603, essv14604680, essv14604466, essv14604943, essv14604557, essv14604476, essv14604844, essv14604831, essv14604852, essv14604656, essv14605013, essv14604933, essv14604469, essv14604889, essv14604692, essv14605006, essv14604531, essv14604796, essv14604848, essv14604589, essv14604535, essv14604675, essv14604723, essv14605028, essv14604780, essv14604548, essv14604894, essv14604570, essv14604567, essv14604786, essv14604472, essv14604668, essv14604520, essv14604775, essv14604965, essv14604615, essv14604500, essv14605041, essv14604779, essv14604829, essv14605076, essv14604880, essv14604962, essv14605034, essv14604604, essv14604738, essv14604767, essv14604534, essv14604825, essv14604578, essv14605022, essv14605085, essv14604489, essv14604826, essv14604626, essv14604475, essv14604688, essv14604858, essv14604737, essv14605078, essv14604811, essv14604774, essv14604768, essv14604827, essv14604868, essv14604660, essv14604946, essv14604712, essv14604554, essv14604866, essv14604820, essv14604745, essv14605054, essv14604576, essv14604522, essv14605081, essv14604708, essv14605074, essv14604473, essv14604666, essv14604645, essv14605063, essv14604549, essv14604908, essv14604822, essv14604891, essv14605093, essv14604493, essv14604665, essv14604705, essv14604736, essv14604518, essv14604526, essv14604492, essv14604963, essv14604484, essv14604678, essv14604607, essv14604855, essv14604593, essv14604662, essv14604747, essv14604485, essv14605066, essv14604449, essv14604744, essv14605087, essv14605060, essv14604711, essv14605044, essv14604456, essv14604988, essv14604581, essv14604695, essv14604952, essv14604587, essv14604682, essv14604781, essv14604793, essv14604824, essv14604555, essv14605020, essv14605027, essv14604488, essv14604487, essv14604511, essv14604664, essv14604674, essv14604881, essv14605031, essv14604506, essv14604794, essv14604895, essv14604869, essv14605033, essv14605069, essv14604867, essv14604683, essv14604937, essv14604939, essv14604893, essv14604871, essv14604463, essv14605053, essv14604795, essv14604914, essv14604480, essv14605075, essv14604633, essv14604650, essv14604482, essv14604625, essv14604628, essv14604591, essv14604764, essv14604771, essv14604935, essv14604751, essv14604887, essv14604689, essv14604884, essv14605010, essv14605040, essv14604800, essv14604903, essv14604934, essv14604468, essv14604812, essv14604910, essv14604966, essv14604694, essv14604777, essv14604519, essv14604799, essv14604870, essv14604899, essv14604906, essv14604497, essv14605061, essv14604876, essv14605057, essv14604696, essv14604789, essv14604638, essv14605050, essv14604614, essv14604667, essv14604732, essv14605000, essv14604538, essv14604945, essv14604756, essv14604600, essv14604959, essv14604733, essv14604547, essv14604499, essv14604565, essv14604875, essv14604648, essv14604792, essv14604842, essv14604857, essv14605014, essv14604860, essv14604990, essv14604602, essv14604568, essv14604669, essv14604807, essv14604998, essv14604461, essv14604808, essv14604917, essv14604770, essv14604563, essv14605067, essv14604504, essv14604726, essv14604813, essv14604451, essv14604620, essv14604685, essv14604730, essv14604828, essv14604541, essv14604882, essv14604467, essv14604560, essv14604971, essv14604806, essv14605029, essv14604673, essv14604761, essv14604974, essv14605036, essv14604950, essv14604490, essv14604647, essv14604670, essv14604729, essv14604703, essv14604706, essv14605062, essv14604640, essv14604873, essv14604843, essv14604760, essv14604575, essv14604773, essv14604816, essv14604983, essv14604758, essv14604757, essv14604970, essv14604564, essv14604940, essv14604528, essv14604964, essv14604778, essv14604954, essv14604598, essv14604818, essv14604923, essv14604948, essv14605005, essv14604585, essv14604637, essv14604687, essv14604790, essv14604596, essv14604646, essv14604523, essv14604936, essv14604556, essv14605090, essv14605045, essv14604841, essv14604477, essv14604601, essv14604897, essv14604479, essv14604977, essv14605046, essv14604953, essv14605055, essv14605032, essv14604997, essv14604957, essv14605012, essv14604496, essv14604653, essv14605070, essv14604606, essv14604865, essv14604505, essv14604883, essv14604985, essv14604514, essv14605009, essv14605023, essv14604530, essv14604845, essv14604975, essv14604594, essv14604967, essv14604559, essv14604720, essv14604932, essv14604951, essv14604896, essv14604956, essv14604728, essv14604701, essv14605080, essv14604898, essv14605056, essv14604924, essv14604836, essv14604968, essv14604928, essv14604613, essv14604632, essv14604684, essv14604459, essv14604772, essv14604524, essv14604739, essv14604853, essv14604470, essv14604915, essv14604561, essv14604886, essv14604605, essv14604690, essv14604716, essv14604624, essv14604907, essv14604749, essv14604748, essv14604788, essv14604856, essv14604454, essv14604569, essv14604627, essv14604641, essv14604553, essv14605030, essv14604597, essv14605035, essv14604663, essv14604704, essv14604516, essv14604776, essv14604543, essv14604612, essv14604517, essv14604651, essv14604525, essv14604572, essv14604652, essv14604862, essv14604503, essv14604583, essv14604901, essv14604947, essv14604734, essv14605064, essv14604657, essv14605019, essv14604724, essv14604769, essv14604610, essv14604659, essv14605002, essv14604905, essv14604702, essv14604784, essv14604984, essv14604552, essv14604759, essv14605088, essv14604495, essv14604762, essv14604508, essv14604592, essv14604874, essv14605038, essv14605049, essv14604918, essv14604832, essv14604969, essv14605089, essv14604661, essv14604453, essv14604931, essv14605021, essv14604846, essv14604913, essv14604849, essv14605077, essv14604532, essv14604709, essv14604590, essv14604644, essv14604717, essv14604755, essv14604801, essv14604618, essv14604833, essv14605017, essv14604698, essv14604710, essv14604926, essv14604912, essv14604999, essv14604821, essv14604510, essv14605091, essv14604455, essv14604515, essv14604464, essv14604631, essv14604693, essv14605083, essv14604980, essv14605025, essv14604904, essv14604817, essv14605039, essv14604766, essv14605059, essv14604837, essv14604872, essv14604798, essv14604991, essv14604521, essv14604890, essv14604892, essv14604471, essv14604494, essv14604537, essv14604623, essv14604630, essv14604979, essv14604502, essv14604574, essv14604731, essv14604804, essv14604742, essv14604803, essv14604815, essv14604635, essv14604474, essv14604671, essv14604545, essv14604885, essv14605018, essv14604611, essv14604805, essv14604539, essv14604681, essv14604814, essv14604922, essv14604927, essv14604944, essv14605026, essv14605072, essv14604616, essv14604719, essv14605015, essv14604765, essv14604902, essv14604629, essv14604727, essv14604929, essv14604571, essv14604938, essv14604714, essv14604752, essv14605084, essv14604460, essv14604542, essv14604582, essv14604540, essv14604791, essv14604697, essv14604718, essv14605058, essv14604501, essv14604573, essv14604458, essv14604819, essv14604839, essv14604809, essv14604452, essv14604840, essv14604925, essv14604529, essv14604634, essv14604835, essv14604481, essv14604879, essv14605016, essv14604677, essv14604911, essv14604921, essv14604877, essv14604512, essv14604672, essv14604580, essv14605011, essv14604676, essv14604993, essv14605024, essv14604478, essv14604562, essv14604721, essv14604909, essv14605068, essv14604558, essv14604715, essv14605048, essv14604722, essv14604763, essv14605065, essv14604609, essv14604743, essv14604982, essv14605052, essv14604658, essv14604992, essv14604639, essv14604830, essv14604864, essv14605082, essv14604691, essv14604754, essv14604996, essv14604782, essv14604797, essv14604595, essv14604642, essv14605042, essv14605086, essv14604753, essv14604586, essv14604486, essv14604994, essv14604741, essv14605003, essv14604941, essv14604577, essv14604949, essv14604735, essv14604491, essv14604976, essv14604507, essv14604713, essv14604916, essv14604930, essv14604834, essv14604960, essv14604527, essv14605008, essv14604619, essv14604622, essv14604654, essv14604550, essv14604655, essv14604686, essv14605047, essv14605037, essv14604942, essv14604986, essv14604854, essv14604851, essv14605071, essv14604608, essv14605043, essv14604920, essv14604579, essv14604707, essv14604973, essv14604546, essv14604599, essv14604989, essv14604900, essv14604551, essv14605004, essv14604643, essv14604740, essv14604725, essv14604450, essv14604802, essv14604878, essv14604617, essv14605001, essv14604462, essv14604972, essv14604649, essv14604863, essv14604958, essv14604978, essv14604536, essv14604785, essv14604750, essv14605079, essv14604810, essv14604823, essv14604699, essv14604679, essv14604987, essv14604621, essv14604533, essv14604859, essv14604457, essv14604850, essv14604498, essv14604919, essv14605051, essv14604787, essv14604888, essv14604584, essv14604465, essv14604861, essv14605007, essv14604838
SamplesHG01357, HG00613, HG01878, HG02724, NA19207, NA20876, NA18951, NA19089, HG01811, HG03729, HG01852, NA18530, NA18535, NA19081, HG03631, NA20752, HG00437, HG00500, HG00274, NA18757, NA12347, HG00565, HG02060, HG02088, NA19435, NA20296, HG02648, HG03452, HG03896, HG04056, NA18516, HG02153, HG03469, HG01488, NA18517, NA21124, NA18947, HG03653, HG03616, HG01200, HG02029, HG03920, HG00139, NA18541, NA21135, HG01167, HG04118, HG04094, HG03916, HG02355, HG03268, HG03378, HG01860, NA18505, NA18625, NA18950, HG02081, HG02420, HG00556, HG01148, NA20875, NA19076, HG03484, HG00349, NA19197, NA19107, NA18636, NA18592, NA19083, NA19088, HG00315, NA12761, NA18956, HG02016, NA18959, HG03520, NA18609, NA11831, NA18637, HG01161, HG04063, NA18593, HG02380, NA12234, NA19700, NA19082, HG03722, NA21102, HG02737, HG03742, HG03780, HG03895, NA19190, NA19000, HG00097, HG01242, HG00267, HG02151, NA19395, NA19786, HG04017, HG01600, HG02878, NA19771, HG02185, HG00110, HG02054, HG02768, NA21128, NA18939, HG01766, HG03673, NA18968, HG00365, HG02922, NA21107, HG00851, HG02073, HG02573, HG02623, HG00265, HG02017, HG02558, HG02069, HG02938, HG00102, NA18978, HG00277, HG03366, HG01080, HG03800, NA20815, HG02087, HG00524, NA21100, HG02364, HG04162, HG00458, HG04093, HG02084, NA20355, HG02190, HG02570, NA19235, NA21101, NA18619, NA18987, HG02947, HG03224, HG00445, NA18597, NA19921, HG01809, NA20756, HG02128, NA19723, HG04022, HG00717, HG02645, NA20276, HG02154, HG02238, NA18740, HG01632, HG03246, NA12413, NA12812, NA19009, HG03771, HG03716, HG02181, HG03267, NA18631, NA19431, NA21087, HG01862, HG02035, HG03872, NA20318, HG00608, HG04035, HG00654, NA18614, NA19475, HG02252, HG00530, HG01802, HG04018, NA18548, HG02687, HG03259, HG00238, NA12546, HG03258, NA18499, HG00708, HG02682, HG00623, NA20792, HG02642, HG00320, HG01498, NA20904, HG00690, HG01842, HG01985, NA19204, NA19113, NA18981, HG00598, HG03515, HG03885, NA18908, NA18615, HG02188, NA19185, HG02505, HG00376, HG00671, NA19087, HG00704, HG01890, HG02064, NA19385, HG02855, HG01474, HG02367, HG00531, HG03006, HG03775, NA18553, HG00327, HG01864, HG02691, HG03370, HG03684, NA20281, HG01372, HG02057, NA18964, HG02477, HG03832, NA12249, NA21142, HG00536, HG00607, NA20874, NA20514, HG01846, HG00304, HG01700, HG02138, HG02398, HG02116, HG01817, HG03280, HG01130, HG04003, NA20866, HG01075, HG03977, NA18561, HG01918, HG04202, HG01046, HG02086, HG02816, HG03112, HG00245, HG00596, HG00879, HG03055, HG01849, HG01794, NA18550, HG02318, NA18511, HG01098, NA06989, NA18639, NA20299, HG01624, HG03611, NA18648, HG02048, HG03709, HG00452, HG04026, HG03046, NA18969, HG02885, NA20342, HG01524, HG03973, NA18573, NA18608, NA20778, HG01049, HG03234, NA19782, HG00446, HG02379, NA21098, HG02020, HG00106, HG00701, HG03294, HG03401, HG01029, HG02156, HG02760, HG00557, HG03229, HG03485, NA18965, HG02049, HG04100, NA18488, HG01848, HG01871, NA19084, HG03947, HG01841, NA18873, HG03457, HG03756, NA19654, NA19043, HG03376, HG04076, NA18632, HG00342, HG00266, HG01311, NA19762, HG00115, HG03667, HG04238, NA18559, HG00339, HG04219, NA18912, HG03470, HG04210, NA18998, NA20885, HG02360, NA18624, NA18992, HG01796, NA12282, NA20515, NA21088, HG02397, HG01028, NA11994, NA19057, NA19068, HG02121, HG01865, NA18960, HG00332, HG02050, NA18563, NA18618, NA07357, HG01595, NA18644, NA19792, NA21127, HG03578, HG03899, NA12873, HG02032, HG01851, HG03884, HG03436, NA18531, HG00141, HG00628, HG01815, HG03727, HG03844, NA11933, HG00258, HG02220, HG03024, HG03100, HG03539, NA19256, HG01136, HG04099, NA19835, NA20282, HG02356, NA18982, HG03864, NA19056, NA19663, NA18634, NA18643, NA20589, HG03971, HG02756, HG03685, HG03848, HG04185, HG00133, HG03063, HG02058, HG02603, HG01874, HG03731, NA21122, HG00620, HG02840, HG02325, NA18537, NA18620, HG02019, HG03195, NA18525, NA19703, NA20767, HG01989, HG02178, HG03995, HG03914, HG03743, NA18486, HG00559, HG01271, HG03919, NA18522, HG03754, NA18502, HG00560, HG02439, NA19731, NA18558, HG04239, HG00273, HG04062, HG00282, HG02611, HG03514, HG03974, NA19704, NA20814, HG03518, NA20774, NA18613, HG03428, HG03733, HG02502, HG03157, HG03433, NA18988, HG00329, HG00341, HG01447, NA19074, HG03291, HG02052, NA18579, HG02395, HG03767, HG03943, NA18945, HG02026, HG03175, HG01779, HG03108, HG01566, NA10851, NA18582, HG01063, HG04155, NA18599, NA18907, HG00611, HG01334, HG03790, HG02182, HG04047, NA06984, NA18867, NA19403, HG02134, HG03694, NA18565, HG03644, HG03913, NA18646, HG02075, HG03989, HG00262, HG03556, HG01303, NA18989, HG00409, NA18971, HG01669, NA18602, HG02186, HG02481, HG02141, HG03905, HG03594, NA18864, HG03240, NA18946, HG01464, HG02489, HG02465, HG01619, HG03343, HG00656, HG02678, HG02464, HG03607, HG03369, HG00422, HG01746, NA19070, NA19118, HG00367, HG02485, HG02522, HG03557, HG03838, NA18532, NA18549, NA18853, HG03117, HG01522, HG03012, HG04006, HG00684, HG02391, NA06994, HG00476, HG02013, NA12760, HG01857, NA20517, HG00272, NA20519, HG02130, NA19065, NA19121, NA20339, NA18980, NA20863, HG02122, NA19012, HG02808, NA18621, HG03968, HG04225, HG00309, HG00157, HG03160, HG02854, HG00537, HG03120, HG02166, NA19214, NA18595, HG01284, HG00619, NA18534, HG03784, NA18630, HG00978, HG02164, HG01859, HG00171, HG03478, NA18526, HG00457, NA12815, NA18603, NA19319, HG00657, HG03133, HG04090, NA12828, HG00475, HG02722, HG03571, NA20321, HG02508, NA18489, HG01507, HG01762, HG03099, HG00698, NA18994, NA20897, HG04001, HG03967, HG04180, HG01861, HG04200, NA18557, NA18745, HG01608, HG03863, HG01840, NA18596, NA18949, HG03803, HG01597, NA19062, HG02588, NA20896, HG04206, NA18967, NA19314, HG02699, HG03779, NA20764, HG00240, NA18536, NA18622, HG01402, HG00759, NA18617, HG00692, HG03442, HG03681, HG03898, HG03926, NA19908, HG00125, HG01589, HG02143, HG02078, NA19075, HG00451, HG03887, NA11995, NA18916, HG00634, HG03079
Known GenesMAPKAPK5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630769
Frequency
Sample Size2504
Observed Gain0
Observed Loss646
Observed Complex0
Frequencyn/a


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