A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3629729



Internal ID6669868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:62000178..62000714hg38UCSC Ensembl
Innerchr12:62000178..62000714hg38UCSC Ensembl
Outerchr12:62000178..62000714hg38UCSC Ensembl
chr12:62393959..62394495hg19UCSC Ensembl
Innerchr12:62393959..62394495hg19UCSC Ensembl
Outerchr12:62393959..62394495hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg38537
hg19537
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14508516, essv14508721, essv14509208, essv14509118, essv14509025, essv14509111, essv14508676, essv14508557, essv14509146, essv14509158, essv14509092, essv14508543, essv14508741, essv14509105, essv14508590, essv14508603, essv14508508, essv14508960, essv14509207, essv14509246, essv14508750, essv14508720, essv14509022, essv14509049, essv14508804, essv14508580, essv14508596, essv14509075, essv14508490, essv14509189, essv14509120, essv14508756, essv14508617, essv14509086, essv14509168, essv14509028, essv14509249, essv14509119, essv14509294, essv14508685, essv14508953, essv14509136, essv14508488, essv14508679, essv14508895, essv14509045, essv14508764, essv14508879, essv14509153, essv14508614, essv14509216, essv14509243, essv14509297, essv14509048, essv14509254, essv14508962, essv14508917, essv14509067, essv14508727, essv14508600, essv14508941, essv14509209, essv14508686, essv14508810, essv14508520, essv14508873, essv14509175, essv14509173, essv14508848, essv14508974, essv14509125, essv14509197, essv14508763, essv14509201, essv14508966, essv14508837, essv14508739, essv14509151, essv14508916, essv14508494, essv14508825, essv14508778, essv14508565, essv14508650, essv14508706, essv14508511, essv14508534, essv14509019, essv14508489, essv14508699, essv14508977, essv14508562, essv14508852, essv14509157, essv14508678, essv14508896, essv14508925, essv14508988, essv14508891, essv14508910, essv14508969, essv14508911, essv14508547, essv14509056, essv14509073, essv14509113, essv14509112, essv14509199, essv14509194, essv14508809, essv14508785, essv14508963, essv14508867, essv14509206, essv14508794, essv14508983, essv14508615, essv14508474, essv14508633, essv14508661, essv14508754, essv14508975, essv14509287, essv14508938, essv14509023, essv14508546, essv14508632, essv14508733, essv14508790, essv14508961, essv14508874, essv14508726, essv14509156, essv14509176, essv14509192, essv14508619, essv14509061, essv14508777, essv14509290, essv14509234, essv14509195, essv14508882, essv14508725, essv14509261, essv14509074, essv14508920, essv14508493, essv14508793, essv14508539, essv14509085, essv14509013, essv14508797, essv14509286, essv14508566, essv14508976, essv14509042, essv14509127, essv14509225, essv14508666, essv14508751, essv14509080, essv14509166, essv14508684, essv14508900, essv14508476, essv14508772, essv14508757, essv14509190, essv14508542, essv14508598, essv14508871, essv14508888, essv14509029, essv14509196, essv14509116, essv14508657, essv14508694, essv14508762, essv14509051, essv14509071, essv14509122, essv14508952, essv14508945, essv14508755, essv14509101, essv14508668, essv14508918, essv14508606, essv14508834, essv14509188, essv14508645, essv14508731, essv14508899, essv14508878, essv14508813, essv14508939, essv14508771, essv14508908, essv14508643, essv14509224, essv14508500, essv14509036, essv14509266, essv14508473, essv14509154, essv14508593, essv14508760, essv14508970, essv14509242, essv14508850, essv14509040, essv14508885, essv14508950, essv14508781, essv14508766, essv14508854, essv14508560, essv14509221, essv14508946, essv14508972, essv14509110, essv14508923, essv14508927, essv14508507, essv14508886, essv14508932, essv14508728, essv14508875, essv14508576, essv14509008, essv14508589, essv14508971, essv14508509, essv14508997, essv14508479, essv14508638, essv14508641, essv14508553, essv14509271, essv14509241, essv14508707, essv14508561, essv14508818, essv14508612, essv14508688, essv14508610, essv14508687, essv14508744, essv14508654, essv14509043, essv14509046, essv14508529, essv14508673, essv14508876, essv14509253, essv14509202, essv14509257, essv14508782, essv14508887, essv14508924, essv14508905, essv14509109, essv14508515, essv14508830, essv14509212, essv14509305, essv14508675, essv14508541, essv14508829, essv14509034, essv14509115, essv14509169, essv14509044, essv14508521, essv14508653, essv14509102, essv14508528, essv14509262, essv14508532, essv14509114, essv14509182, essv14509009, essv14508866, essv14508902, essv14509160, essv14509298, essv14508670, essv14509070, essv14509143, essv14508569, essv14508758, essv14508525, essv14508869, essv14508838, essv14508906, essv14509104, essv14508573, essv14508484, essv14508671, essv14509187, essv14509200, essv14508480, essv14508745, essv14508814, essv14508481, essv14508517, essv14508935, essv14509304, essv14508510, essv14508698, essv14508703, essv14509289, essv14509245, essv14509089, essv14508651, essv14508734, essv14508859, essv14508991, essv14508722, essv14509041, essv14508748, essv14509047, essv14508595, essv14508602, essv14508629, essv14508693, essv14508965, essv14509240, essv14508717, essv14508821, essv14508993, essv14508980, essv14509204, essv14508700, essv14508735, essv14508705, essv14508893, essv14508759, essv14508863, essv14508505, essv14508642, essv14509026, essv14509135, essv14508816, essv14509001, essv14508622, essv14509016, essv14509078, essv14509148, essv14508663, essv14509278, essv14508618, essv14508964, essv14508681, essv14508737, essv14508894, essv14509059, essv14509124, essv14508683, essv14508805, essv14508548, essv14508856, essv14508967, essv14509193, essv14509065, essv14509091, essv14508774, essv14508833, essv14508742, essv14509060, essv14509097, essv14509211, essv14508587, essv14508881, essv14509300, essv14508634, essv14508846, essv14508779, essv14509307, essv14508769, essv14508819, essv14509010, essv14508978, essv14508554, essv14508798, essv14509275, essv14508718, essv14508697, essv14509218, essv14508901, essv14509093, essv14508584, essv14508649, essv14509222, essv14508597, essv14508624, essv14509205, essv14509288, essv14508495, essv14508849, essv14508485, essv14508660, essv14509141, essv14509095, essv14508518, essv14509106, essv14509302, essv14509184, essv14509280, essv14509055, essv14509138, essv14509235, essv14508903, essv14508808, essv14508984, essv14509251, essv14509072, essv14508669, essv14508523, essv14509007, essv14509068, essv14508544, essv14509226, essv14508567, essv14509177, essv14508613, essv14508986, essv14508512, essv14508559, essv14508883, essv14508951, essv14509274, essv14508530, essv14508712, essv14508860, essv14508761, essv14508844, essv14509027, essv14509000, essv14508930, essv14509227, essv14508644, essv14508665, essv14508664, essv14508715, essv14509181, essv14508536, essv14509162, essv14509219, essv14508787, essv14509282, essv14508594, essv14508605, essv14508708, essv14508732, essv14508955, essv14508743, essv14509058, essv14509123, essv14508556, essv14508646, essv14508497, essv14509130, essv14508607, essv14508795, essv14509172, essv14509292, essv14508789, essv14508498, essv14508812, essv14509117, essv14509170, essv14509264, essv14508575, essv14508870, essv14509164, essv14508674, essv14508780, essv14508999, essv14508609, essv14508822, essv14509178, essv14509285, essv14509155, essv14508915, essv14509012, essv14509191, essv14508695, essv14508836, essv14508954, essv14509140, essv14509004, essv14509020, essv14508981, essv14509087, essv14509084, essv14508545, essv14508826, essv14508482, essv14508571, essv14508861, essv14508637, essv14508985, essv14508730, essv14508775, essv14508564, essv14509017, essv14509238, essv14509270, essv14508990, essv14508746, essv14508496, essv14508957, essv14508620, essv14509094, essv14508702, essv14508626, essv14508689, essv14509259, essv14508801, essv14508581, essv14508667, essv14509081, essv14509090, essv14509064, essv14508492, essv14509002, essv14508677, essv14508656, essv14509223, essv14508817, essv14508968, essv14508868, essv14508947, essv14509232, essv14509079, essv14508858, essv14508922, essv14509248, essv14508621, essv14508588, essv14508827, essv14508811, essv14508823, essv14509247, essv14508582, essv14508537, essv14508740, essv14508630, essv14509263, essv14508491, essv14508551, essv14508601, essv14508724, essv14509014, essv14508692, essv14509269, essv14509159, essv14509295, essv14508478, essv14508555, essv14509057, essv14508531, essv14509267, essv14508552, essv14508574, essv14508773, essv14508842, essv14508992, essv14509082, essv14509255, essv14508477, essv14508586, essv14508853, essv14508898, essv14508483, essv14508807, essv14509161, essv14509293, essv14509137, essv14509230, essv14509277, essv14508701, essv14509053, essv14509088, essv14508776, essv14508540, essv14508527, essv14508948, essv14509185, essv14508608, essv14509108, essv14508736, essv14508522, essv14509306, essv14508591, essv14508973, essv14509066, essv14508784, essv14508639, essv14508672, essv14509260, essv14509032, essv14508682, essv14508611, essv14508936, essv14508995, essv14509186, essv14508929, essv14508749, essv14509213, essv14509236, essv14509132, essv14508921, essv14508956, essv14509268, essv14509129, essv14509281, essv14509134, essv14508504, essv14508723, essv14508913, essv14508933, essv14509252, essv14508716, essv14508889, essv14508841, essv14508625, essv14508713, essv14508855, essv14508585, essv14508550, essv14508753, essv14508802, essv14509250, essv14509033, essv14508680, essv14508696, essv14509098, essv14509063, essv14508524, essv14508640, essv14508877, essv14509099, essv14508783, essv14508862, essv14508942, essv14508765, essv14508635, essv14508943, essv14508796, essv14508959, essv14508982, essv14509152, essv14509035, essv14508616, essv14508800, essv14509228, essv14508631, essv14509279, essv14508648, essv14509121, essv14508714, essv14509150, essv14508572, essv14508711, essv14508944, essv14508998, essv14509272, essv14508912, essv14508563, essv14509005, essv14508897, essv14508996, essv14509069, essv14508604, essv14509031, essv14509133, essv14508558, essv14509256, essv14508535, essv14508578, essv14508832, essv14508884, essv14509183, essv14509167, essv14509139, essv14509107, essv14508919, essv14508831, essv14508487, essv14508752, essv14508843, essv14508864, essv14508786, essv14508815, essv14508979, essv14509006, essv14508840, essv14509149, essv14508592, essv14508937, essv14509128, essv14509147, essv14508989, essv14508909, essv14509015, essv14508839, essv14509076, essv14508503, essv14508475, essv14509003, essv14508872, essv14508857, essv14508738, essv14509050, essv14508628, essv14508987, essv14509180, essv14509308, essv14509233, essv14508499, essv14508623, essv14509283, essv14509062, essv14508519, essv14508806, essv14508513, essv14509276, essv14509145, essv14508704, essv14509203, essv14509220, essv14508647, essv14509126, essv14508486, essv14509054, essv14508892, essv14509018, essv14508636, essv14508847, essv14509210, essv14508747, essv14508958, essv14508658, essv14509217, essv14509231, essv14509284, essv14508719, essv14509144, essv14509296, essv14508583, essv14508926, essv14509265, essv14508931, essv14509273, essv14508627, essv14509179, essv14509039, essv14509229, essv14509103, essv14508570, essv14508907, essv14508471, essv14508568, essv14509301, essv14509303, essv14508820, essv14509291, essv14509214, essv14508729, essv14509037, essv14508691, essv14508914, essv14509052, essv14509244, essv14508472, essv14509163, essv14508768, essv14509174, essv14508799, essv14508890, essv14508880, essv14509083, essv14508940, essv14508501, essv14508791, essv14508533, essv14508949, essv14508502, essv14509024, essv14508659, essv14508662, essv14508788, essv14508792, essv14508845, essv14508928, essv14509030, essv14508767, essv14508803, essv14509021, essv14508514, essv14509131, essv14508577, essv14509011, essv14509258, essv14509171, essv14508710, essv14508994, essv14508709, essv14509165, essv14508690, essv14508865, essv14509100, essv14509215, essv14508835, essv14508824, essv14509096, essv14508655, essv14509237, essv14509198, essv14508904, essv14509077, essv14508851, essv14508579, essv14508828, essv14508599, essv14508538, essv14509038, essv14508770, essv14508934, essv14508526, essv14509142, essv14508506, essv14508549, essv14509239, essv14508652, essv14509299
SamplesNA18642, HG01357, HG00613, HG01441, HG01878, HG03858, NA20876, HG02675, HG03646, HG01104, HG02649, HG01811, NA18530, NA18535, HG03631, HG00705, HG00500, NA20851, HG00112, HG00464, NA12347, NA20796, HG00632, NA19435, HG01777, HG01389, HG02139, HG00463, HG01403, HG01365, NA19788, NA21133, HG04060, HG01082, NA18953, NA21124, HG04186, HG03311, HG03616, NA18541, HG00364, HG02375, HG03432, NA19144, HG02694, NA18546, NA18507, HG00683, HG00581, HG02322, HG02277, NA20763, HG04094, HG03796, HG03916, HG01936, HG03812, NA19472, HG04106, HG04209, NA18625, NA18950, HG02133, HG01468, HG03752, HG02082, HG02081, NA21090, HG01148, NA20505, NA11919, HG01384, NA18627, NA11840, HG01312, HG01375, HG00421, NA12004, HG00349, NA19309, HG02233, HG02221, NA18623, HG01572, HG01866, NA18990, NA18636, HG01124, HG01965, NA18592, NA19088, NA18956, HG02016, HG02410, HG03793, NA18959, HG00533, NA21116, NA18637, NA20520, HG01253, HG04063, HG00243, HG00407, NA12234, HG00343, HG00662, NA19728, NA19000, NA19055, HG02392, HG00844, HG01974, HG02236, HG01097, NA18640, HG00653, HG03040, HG03792, HG04161, HG02285, HG03854, NA20884, HG00365, HG01486, HG02073, HG02266, HG01351, HG02386, NA19001, NA20542, NA20766, HG00525, HG01805, HG04093, HG01702, HG03823, HG02084, HG02113, NA19711, HG03692, HG01077, HG02190, HG02339, HG03132, HG04235, HG00109, HG01565, NA18619, NA18987, HG02947, NA19921, HG01190, NA19794, NA18740, HG01799, HG03925, HG02035, HG03815, NA19755, NA19818, NA18548, NA11830, HG01804, NA18944, NA20886, HG01366, HG02089, NA19006, HG00708, NA18610, NA12045, HG00566, HG00119, HG00625, HG01842, HG01985, NA20804, HG00626, HG00704, HG01869, HG01932, HG02064, NA18555, NA19779, HG02396, HG01980, NA18553, HG03625, HG00323, HG03370, HG04131, NA18964, NA19913, HG02477, NA12043, NA19625, HG00734, HG01359, HG01518, HG01775, HG00607, HG02793, HG03785, HG00304, HG01675, NA21125, HG01603, HG02184, HG01438, HG03985, HG01130, NA20785, NA20868, HG02023, NA20516, HG00731, HG02600, HG03693, HG00384, HG00261, HG01935, NA18639, NA20802, HG02979, NA18948, HG02260, NA18591, HG00452, HG04026, NA19010, HG04183, HG01432, HG01524, HG02652, NA18573, NA20786, HG01049, NA18542, NA19184, HG02105, HG00446, NA21098, NA19210, HG01954, HG02231, HG04216, HG02790, HG03750, HG01029, HG03019, HG03548, NA19004, NA19678, HG00557, HG01571, HG03229, HG01961, HG02789, HG01848, NA19084, HG02778, HG03488, NA19780, HG01348, NA12341, HG01950, NA20877, HG00188, HG03457, NA18626, NA19776, HG00479, HG03159, HG03687, NA20586, HG00256, NA18632, HG04038, NA19117, HG00543, HG03667, HG02455, HG04238, NA18559, HG02008, NA19726, NA19067, HG01086, NA12843, NA20533, NA18624, NA19054, NA21108, HG01456, HG02137, HG03235, NA18992, NA21137, HG01510, NA20819, NA21088, HG00472, HG02696, NA19652, HG00583, HG01618, HG01672, HG02397, HG03021, HG01028, HG01414, NA11994, NA19068, HG02121, NA18960, HG00180, HG01938, HG03202, NA18563, HG02142, NA20757, HG02292, HG03686, NA18644, NA19020, HG03867, NA19011, HG03899, NA12873, HG02032, NA20783, HG01785, NA20807, HG00689, HG02373, HG03911, NA18531, HG00141, HG00628, HG01815, HG04194, NA20762, HG01795, NA19351, HG03805, NA19066, HG03445, NA20882, HG00178, HG00419, HG02851, NA18547, HG00258, HG01977, HG01997, NA18976, HG01113, HG01527, HG02028, NA18973, NA19773, HG03604, NA19658, NA18982, NA19056, NA19663, NA19679, NA18634, NA20589, HG03971, HG00584, HG04185, NA19316, NA19684, NA20773, NA21115, HG00867, HG01497, NA12006, HG00436, HG02058, HG01874, HG02888, HG03731, NA21122, HG00159, HG00620, HG02304, HG01280, HG02490, NA19785, NA21143, HG03190, NA19172, NA19759, HG01705, HG02019, HG02127, NA18525, NA18572, NA18954, NA20767, NA20512, HG00629, NA18923, NA20826, HG03743, HG01271, HG01914, HG01455, HG03649, HG03754, HG01121, HG04173, HG00560, HG02439, NA19731, NA20540, HG01853, NA18558, NA18977, NA19098, NA18941, HG01369, HG04080, NA18749, HG01967, HG03619, HG01176, NA18748, HG00478, HG01923, NA18942, HG00132, HG01139, HG02111, NA20828, HG02780, NA18613, HG00513, HG03428, HG04212, HG02384, NA18988, HG01447, HG00105, NA18562, NA19074, HG01060, NA18579, HG02614, NA18974, HG02690, HG01598, HG03767, NA18945, HG01149, NA18606, HG00410, HG01933, HG01979, HG02345, HG01259, HG01566, NA18582, NA18999, HG01757, HG00590, HG00595, HG02301, NA18552, NA19038, NA21126, NA18983, HG00443, HG01393, HG02067, NA18599, HG01405, HG01973, HG03499, NA19078, HG00611, HG03629, HG03745, HG02182, HG03679, HG00650, NA18867, HG02351, NA19764, HG01872, HG02134, NA18565, HG03644, NA20867, HG02075, HG03989, NA19741, NA18560, HG00409, NA18971, HG00448, HG02144, NA18602, HG02186, NA18577, HG02141, HG01992, NA12003, NA18946, NA19064, NA20846, NA21117, NA19399, NA19717, HG00656, NA19655, HG02464, HG03607, HG03809, HG00422, HG01855, NA20832, NA19070, HG02286, HG02721, NA18984, HG00693, NA18611, HG03449, HG03814, HG04189, NA19171, NA20768, HG02399, HG01892, HG02136, NA18532, NA18549, NA18574, HG00442, HG01102, HG04006, NA20524, HG00684, HG01631, HG03837, HG01110, NA19758, HG00476, NA19448, HG01857, HG01789, HG04195, NA19750, NA19007, HG01863, HG00136, HG02774, NA19065, NA20899, NA07000, NA18980, HG01536, NA19922, NA20863, HG02122, NA19012, HG02725, HG02808, HG03697, HG02496, HG04225, NA19030, HG00537, HG01926, HG02250, HG02291, NA20787, HG02166, HG03760, NA20771, HG03861, HG02371, HG03668, NA19734, HG02272, NA20527, HG01284, HG00619, HG01353, HG03479, NA18630, HG00956, HG03940, HG00129, HG00978, HG01173, HG01859, HG03593, HG00171, HG03856, HG03741, NA18526, NA20535, HG00155, HG01970, HG02601, HG00457, HG01927, HG03189, NA20759, HG00657, HG02783, HG03133, NA20902, HG02104, NA12828, HG00475, NA20889, HG01537, NA20321, HG02508, HG01350, HG01606, HG03458, NA21104, NA20539, HG00698, HG01708, NA18994, NA20897, HG01344, HG01844, NA07051, HG03491, HG01134, HG01861, NA20798, HG00699, NA18557, NA18745, NA20755, HG01608, NA20521, NA18943, NA19761, HG01840, NA18596, NA18628, NA18949, NA19143, HG00592, NA19077, NA20320, HG01917, HG02402, HG02312, HG03955, NA19062, HG01550, NA18979, NA19085, HG00346, HG02061, NA18967, HG04075, NA20849, NA19735, HG00593, HG02646, HG03779, HG00240, HG00308, NA20811, NA18536, HG04164, NA18641, HG00728, HG01694, HG00121, HG03439, HG02090, HG02385, HG03787, HG02557, HG00125, HG01360, HG01589, HG02348, HG02078, NA19075, HG00451, HG03887, HG00174, HG03079, HG00276, HG01187, NA12777, HG01362, NA19082, NA19042, HG02757, HG03780, HG01810, HG03126, NA19786, HG01600, NA18747, NA19771, HG02768, NA21128, NA20348, NA20790, NA19027, NA20910, HG04158, NA18986, HG00263, NA19005, NA21112, HG00851, HG00176, NA19119, HG01281, NA19664, HG02069, HG00277, HG00103, HG01080, HG00524, HG04162, HG00458, HG00599, NA12283, HG01383, HG01894, HG03022, HG02586, NA19789, HG01512, HG01531, HG00120, HG03385, HG02484, HG00445, HG02281, NA18597, HG01809, NA19729, NA12272, HG03589, HG00717, HG01939, NA18538, NA21109, HG01256, HG01862, HG01893, NA19747, HG00608, HG04035, HG01390, NA18614, HG00530, HG04018, NA19740, HG01485, HG00123, HG00285, HG02408, HG01323, HG01947, NA19732, HG02271, HG03640, NA19756, NA19346, HG00690, HG00641, NA19204, HG00473, NA18615, HG02188, NA19454, HG01890, HG04182, HG00107, HG02425, HG03777, NA18629, HG01578, HG02253, HG01686, HG03937, HG02666, HG01513, HG01868, NA18647, HG03963, NA12718, HG00313, NA12750, NA20874, HG02108, NA20890, HG02138, NA20809, HG02116, HG04003, NA18561, HG02025, HG03437, HG00596, NA19783, HG01944, HG00310, NA18570, NA19072, HG01054, HG04211, NA06989, NA19670, NA18648, NA20511, HG01085, HG02048, NA19338, HG00173, NA18608, HG03234, NA19461, HG02314, HG02020, HG00106, HG01680
Known GenesFAM19A2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3629729
Frequency
Sample Size2504
Observed Gain0
Observed Loss838
Observed Complex0
Frequencyn/a


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