A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628539



Internal ID6668682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:10428819..10434234hg38UCSC Ensembl
chr12:10581418..10586833hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg385416
hg195416
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14375467, essv14375973, essv14375682, essv14376136, essv14375735, essv14376099, essv14375546, essv14375685, essv14376135, essv14375920, essv14375953, essv14375917, essv14375847, essv14375425, essv14375611, essv14375898, essv14376017, essv14375471, essv14375581, essv14375993, essv14375650, essv14376061, essv14375868, essv14375417, essv14375616, essv14375402, essv14375460, essv14375585, essv14375875, essv14375356, essv14375380, essv14375492, essv14375412, essv14375910, essv14375752, essv14375369, essv14375493, essv14375666, essv14375732, essv14376120, essv14375711, essv14376046, essv14375389, essv14375692, essv14376116, essv14375866, essv14375637, essv14375584, essv14375803, essv14375807, essv14375671, essv14375856, essv14375796, essv14375588, essv14375465, essv14375892, essv14375854, essv14376108, essv14375463, essv14375554, essv14375589, essv14375484, essv14375933, essv14376127, essv14375646, essv14376152, essv14376112, essv14375811, essv14375317, essv14375716, essv14375418, essv14376096, essv14375800, essv14375523, essv14375385, essv14375810, essv14375571, essv14375620, essv14376032, essv14375951, essv14375660, essv14375498, essv14375378, essv14375384, essv14375851, essv14375339, essv14375363, essv14375825, essv14375365, essv14375325, essv14375804, essv14375319, essv14375697, essv14375786, essv14375762, essv14376103, essv14375672, essv14375540, essv14375572, essv14375876, essv14375872, essv14375597, essv14375724, essv14376109, essv14375753, essv14375971, essv14376079, essv14375843, essv14375801, essv14375527, essv14375738, essv14375927, essv14375743, essv14375742, essv14375838, essv14376122, essv14375863, essv14375447, essv14375445, essv14375623, essv14375627, essv14375483, essv14375536, essv14375681, essv14375680, essv14375995, essv14376119, essv14375448, essv14375491, essv14375723, essv14375661, essv14375631, essv14375663, essv14375924, essv14376022, essv14375427, essv14375461, essv14376130, essv14375580, essv14375674, essv14375779, essv14375497, essv14375562, essv14375437, essv14375861, essv14375549, essv14375390, essv14375835, essv14375665, essv14375761, essv14375832, essv14376125, essv14375519, essv14375679, essv14375932, essv14375547, essv14375343, essv14375839, essv14376025, essv14375422, essv14375818, essv14375578, essv14376106, essv14375564, essv14375809, essv14375871, essv14375996, essv14375701, essv14375864, essv14376012, essv14375614, essv14376021, essv14375656, essv14375915, essv14376082, essv14375357, essv14375511, essv14375647, essv14375337, essv14375513, essv14375628, essv14375791, essv14375880, essv14375731, essv14375895, essv14375326, essv14375393, essv14375473, essv14375528, essv14375960, essv14375970, essv14375407, essv14375419, essv14376008, essv14375766, essv14375746, essv14375976, essv14376088, essv14376140, essv14375999, essv14375952, essv14376126, essv14375792, essv14375426, essv14376040, essv14376014, essv14376102, essv14376038, essv14376031, essv14376075, essv14375347, essv14375698, essv14375683, essv14375812, essv14375441, essv14375828, essv14375322, essv14375522, essv14375694, essv14375994, essv14375382, essv14375351, essv14375644, essv14375486, essv14375469, essv14375945, essv14375489, essv14376028, essv14375959, essv14375937, essv14375457, essv14375603, essv14376163, essv14375379, essv14375858, essv14375687, essv14375708, essv14375720, essv14375964, essv14375659, essv14375699, essv14375651, essv14376004, essv14375806, essv14375814, essv14376030, essv14375358, essv14376146, essv14375624, essv14375782, essv14375919, essv14376000, essv14376036, essv14375348, essv14375354, essv14375901, essv14376091, essv14375366, essv14375955, essv14375415, essv14375881, essv14375586, essv14375977, essv14375435, essv14375734, essv14376052, essv14375373, essv14375509, essv14375409, essv14375481, essv14375541, essv14375570, essv14375837, essv14375609, essv14375889, essv14376097, essv14375921, essv14375639, essv14375896, essv14375950, essv14375479, essv14375610, essv14375998, essv14375499, essv14375984, essv14376080, essv14375794, essv14375759, essv14376043, essv14376057, essv14375420, essv14375335, essv14375691, essv14376058, essv14375849, essv14375747, essv14375715, essv14376006, essv14376062, essv14375440, essv14375487, essv14376009, essv14375590, essv14375833, essv14376150, essv14375992, essv14376023, essv14375399, essv14375657, essv14375983, essv14376039, essv14376104, essv14375869, essv14376045, essv14375383, essv14375592, essv14376133, essv14375606, essv14376049, essv14375905, essv14376084, essv14375619, essv14375852, essv14375535, essv14375669, essv14375831, essv14376095, essv14375507, essv14375840, essv14376074, essv14376070, essv14375780, essv14375969, essv14376115, essv14375795, essv14375821, essv14375979, essv14375948, essv14376124, essv14375797, essv14375834, essv14375763, essv14375364, essv14375406, essv14375518, essv14375359, essv14375531, essv14375733, essv14375925, essv14375451, essv14375943, essv14376029, essv14376144, essv14376085, essv14375320, essv14375740, essv14375602, essv14375438, essv14375599, essv14375342, essv14375667, essv14375323, essv14375534, essv14375785, essv14376089, essv14376013, essv14375756, essv14375413, essv14375553, essv14375909, essv14375778, essv14375488, essv14375726, essv14375874, essv14376069, essv14376081, essv14375386, essv14375741, essv14375408, essv14375668, essv14375560, essv14375820, essv14375938, essv14376011, essv14375707, essv14375737, essv14375848, essv14376072, essv14376003, essv14375980, essv14376166, essv14375565, essv14375608, essv14376077, essv14375568, essv14375827, essv14375907, essv14375328, essv14375548, essv14375436, essv14375621, essv14376159, essv14375693, essv14375362, essv14375450, essv14375503, essv14375940, essv14375582, essv14375649, essv14376158, essv14376162, essv14375474, essv14375577, essv14375967, essv14375990, essv14376139, essv14375641, essv14375405, essv14375689, essv14375372, essv14376051, essv14375525, essv14376160, essv14375885, essv14376042, essv14375617, essv14375975, essv14375464, essv14375788, essv14375583, essv14375757, essv14375453, essv14375526, essv14376107, essv14375622, essv14375784, essv14376153, essv14375411, essv14375853, essv14375414, essv14375787, essv14375893, essv14375545, essv14375455, essv14375576, essv14375630, essv14376047, essv14375367, essv14375941, essv14376098, essv14375433, essv14376015, essv14376111, essv14375677, essv14376138, essv14375850, essv14376060, essv14375968, essv14376067, essv14375823, essv14375997, essv14375394, essv14375504, essv14375642, essv14375857, essv14376128, essv14375886, essv14375962, essv14375618, essv14375673, essv14375846, essv14375324, essv14375345, essv14375887, essv14376094, essv14375947, essv14376041, essv14375760, essv14375859, essv14376071, essv14376110, essv14375758, essv14375745, essv14375468, essv14375352, essv14376054, essv14375633, essv14375826, essv14375882, essv14375485, essv14375769, essv14375421, essv14375424, essv14375537, essv14375748, essv14375773, essv14375349, essv14375855, essv14376147, essv14375591, essv14375836, essv14375922, essv14375395, essv14376027, essv14375830, essv14375466, essv14375575, essv14375829, essv14375842, essv14376007, essv14376123, essv14375520, essv14375423, essv14376044, essv14375401, essv14376132, essv14375808, essv14376078, essv14375529, essv14376010, essv14375860, essv14375398, essv14375643, essv14375709, essv14375454, essv14375567, essv14375799, essv14376141, essv14376143, essv14375593, essv14375974, essv14375958, essv14376020, essv14376055, essv14375931, essv14375533, essv14376005, essv14375333, essv14375558, essv14376090, essv14375376, essv14376134, essv14375634, essv14375906, essv14375845, essv14375877, essv14375978, essv14376151, essv14375566, essv14375500, essv14375439, essv14375559, essv14375690, essv14375538, essv14375482, essv14375330, essv14375710, essv14375841, essv14375914, essv14375432, essv14375377, essv14375658, essv14375360, essv14375899, essv14375452, essv14375579, essv14376165, essv14375790, essv14376076, essv14375607, essv14375355, essv14375894, essv14375510, essv14375903, essv14375506, essv14375813, essv14375883, essv14375755, essv14375556, essv14375397, essv14375604, essv14375635, essv14375636, essv14376065, essv14375601, essv14375822, essv14376064, essv14375702, essv14375392, essv14375400, essv14375346, essv14376129, essv14375353, essv14376121, essv14375444, essv14375884, essv14375751, essv14376093, essv14375805, essv14375944, essv14375374, essv14375551, essv14375776, essv14375908, essv14376037, essv14376048, essv14375530, essv14375490, essv14375428, essv14375991, essv14375563, essv14375456, essv14375706, essv14375862, essv14375988, essv14375926, essv14375501, essv14375725, essv14375403, essv14375430, essv14375930, essv14375449, essv14375329, essv14375638, essv14375912, essv14375957, essv14375873, essv14375652, essv14376100, essv14375495, essv14375783, essv14376056, essv14376068, essv14375475, essv14376114, essv14375334, essv14375916, essv14376035, essv14375654, essv14375739, essv14375989, essv14375891, essv14375987, essv14376026, essv14375713, essv14376059, essv14375775, essv14375789, essv14375557, essv14375508, essv14376154, essv14375865, essv14375544, essv14375705, essv14375956, essv14375478, essv14376145, essv14375368, essv14375911, essv14375344, essv14375867, essv14375458, essv14375517, essv14376083, essv14376101, essv14375730, essv14375404, essv14375442, essv14376142, essv14375727, essv14376113, essv14375890, essv14375446, essv14375443, essv14375923, essv14375966, essv14375640, essv14375768, essv14375714, essv14375332, essv14375569, essv14375771, essv14375595, essv14375434, essv14375391, essv14375793, essv14375904, essv14375942, essv14375494, essv14375655, essv14376092, essv14375965, essv14375936, essv14375816, essv14375686, essv14375331, essv14375542, essv14375676, essv14375596, essv14376087, essv14375462, essv14375555, essv14375598, essv14375615, essv14375774, essv14375505, essv14375338, essv14375350, essv14375918, essv14376117, essv14375721, essv14375470, essv14375480, essv14375824, essv14375902, essv14376019, essv14375532, essv14375431, essv14375370, essv14375375, essv14375396, essv14375982, essv14375764, essv14376024, essv14375629, essv14375712, essv14376033, essv14375675, essv14375514, essv14376001, essv14375961, essv14376155, essv14375573, essv14375645, essv14375772, essv14375767, essv14376149, essv14375749, essv14375870, essv14375678, essv14375935, essv14375361, essv14375781, essv14375477, essv14375722, essv14375765, essv14376073, essv14375496, essv14375802, essv14375815, essv14375929, essv14375459, essv14376086, essv14375587, essv14375371, essv14375817, essv14375744, essv14375954, essv14375516, essv14375550, essv14376002, essv14375561, essv14376105, essv14375524, essv14375949, essv14375512, essv14376063, essv14375594, essv14375613, essv14375664, essv14375777, essv14375718, essv14375700, essv14375416, essv14375696, essv14375879, essv14376157, essv14375934, essv14376016, essv14375327, essv14375429, essv14375719, essv14375972, essv14375981, essv14375897, essv14375754, essv14375502, essv14375648, essv14375543, essv14375798, essv14376118, essv14375552, essv14375515, essv14375670, essv14375844, essv14375521, essv14375340, essv14376018, essv14375946, essv14375963, essv14376131, essv14376034, essv14375381, essv14375574, essv14375717, essv14376161, essv14376050, essv14375729, essv14375770, essv14375939, essv14375539, essv14375600, essv14375387, essv14375913, essv14375704, essv14375341, essv14375388, essv14375626, essv14375472, essv14376156, essv14375688, essv14375986, essv14375653, essv14375900, essv14375410, essv14375625, essv14375662, essv14375605, essv14375695, essv14376053, essv14376164, essv14375728, essv14375878, essv14375819, essv14375750, essv14375612, essv14375684, essv14376066, essv14375336, essv14376137, essv14375888, essv14375318, essv14375703, essv14375985, essv14376148, essv14375476, essv14375736, essv14375928, essv14375321, essv14375632
SamplesHG02879, HG01441, HG02724, HG00864, HG02317, NA19312, NA12154, HG03015, HG00257, HG02675, HG01104, HG02649, HG03064, HG03382, HG01811, HG01852, HG02298, NA18530, NA18535, NA12286, HG00328, HG01988, HG00500, HG01882, HG00112, HG00274, HG00186, NA12347, NA20544, HG01105, HG02334, HG01800, NA11918, NA20346, NA19223, HG01845, HG02450, HG00463, HG01325, HG01850, NA19334, NA19788, NA19331, NA20800, HG01082, HG01816, HG03469, HG01488, NA18517, HG01915, HG04186, NA20362, HG01200, HG02029, NA20894, HG01605, HG02977, NA18541, HG02375, NA18546, HG02497, HG00683, HG00355, HG02322, NA19320, HG04002, NA20763, HG04214, NA20861, HG03696, HG04094, NA19701, HG03916, HG02355, HG03268, HG03812, NA19472, NA20853, HG00353, HG02047, NA18868, HG02082, HG02585, NA19028, HG02081, HG03088, HG00556, NA12763, HG03575, NA18627, HG01312, HG00421, HG02233, NA19197, NA19443, HG03624, NA18990, HG01088, NA18636, HG00315, NA12761, HG02016, HG02410, HG00338, HG03793, HG03520, NA21116, HG01501, NA12400, HG01161, HG01253, HG02521, HG03603, NA18593, HG02380, NA19457, HG03114, HG01986, NA19324, NA19000, HG02392, HG00844, HG03085, NA20291, NA20760, NA19024, NA12778, HG03854, NA19102, HG03547, NA18510, NA19002, HG01773, HG02807, HG01670, NA20878, HG02651, HG00740, NA19001, HG02852, NA20766, NA21092, HG01341, HG03823, HG02113, NA19711, HG02881, HG03132, HG04235, NA18940, HG03224, NA12890, HG01137, HG01190, NA19376, HG03303, NA19794, NA19391, HG02645, HG03009, NA19025, HG02070, HG02238, NA18740, HG03045, NA12812, NA19009, HG02230, HG03267, NA18631, HG02035, HG03172, HG02628, NA20287, HG03078, NA19818, HG00654, HG03259, NA20886, NA20869, HG02256, HG01912, NA19006, NA18610, NA20872, NA11932, HG00566, HG02445, HG02642, HG03908, HG03271, NA12717, HG03802, HG00183, HG02798, NA20806, HG02505, NA18555, NA19385, HG02855, HG02396, HG01474, HG02512, HG00327, HG01864, HG02715, NA19137, HG02427, HG01459, HG02477, HG03058, HG01768, NA20514, HG00304, NA19321, NA20785, HG00127, HG03084, HG01873, HG02407, NA18612, HG00731, HG01858, NA19401, HG03196, NA19090, NA19149, NA19003, NA18639, NA20802, HG02979, HG01847, HG03611, HG02952, NA18591, HG01956, NA18972, NA20342, HG00326, NA18542, HG00553, HG01286, HG03048, HG00446, HG01182, HG00122, HG01771, HG00701, HG02231, NA19834, NA20588, HG02790, HG02156, HG02760, HG00651, HG03538, NA19678, HG00331, HG01990, HG02049, HG04100, HG01871, HG01841, HG01843, NA12044, NA19147, HG00188, HG01504, HG03159, HG03756, HG01133, HG01812, HG03376, HG04076, HG00342, NA19117, NA21106, HG02836, HG00543, HG03667, HG03846, HG00339, HG01924, HG04098, NA19067, NA20585, HG02981, NA18912, NA19982, NA20854, HG01086, HG03470, NA20533, HG01363, HG02684, NA18934, HG00179, HG03127, HG02634, HG03235, NA18992, HG01510, HG03672, NA20819, HG01796, NA12282, NA20356, NA20515, HG01672, HG03021, HG01028, HG01414, HG03300, NA12383, NA18566, NA18957, NA19057, NA19068, HG02716, HG00180, HG03202, NA18618, NA19900, NA20504, NA20757, HG01595, NA19020, HG00610, HG02577, HG02968, NA12762, HG02032, NA20801, HG02373, NA20754, HG01620, NA18531, HG00141, HG00628, HG00330, HG01795, HG03241, HG03727, NA18638, NA19066, HG02763, NA20541, HG00150, HG01556, HG03965, HG00419, HG02851, HG00258, HG02220, HG03024, HG03539, HG01136, HG03565, NA19773, HG00637, HG03864, NA20892, HG00403, HG03166, NA21144, HG02756, HG03685, HG03848, NA18970, NA20773, HG00114, HG02224, HG02941, HG03063, NA19213, NA19676, NA21099, HG02283, HG02888, HG03225, HG02840, HG00108, HG02325, HG03190, HG01705, HG02019, HG03195, HG00360, HG01308, NA19703, HG03209, NA19375, NA19393, NA20126, HG01989, HG02178, HG00382, HG00629, HG01806, HG03455, HG01271, HG03511, HG04070, NA20334, HG02804, HG01121, HG04173, HG00560, NA19713, NA18977, NA19098, NA18941, NA18749, HG00273, HG02401, HG03849, HG02611, HG03097, HG02343, HG01786, HG00478, NA18564, NA18942, HG00132, HG01889, HG02111, HG03518, NA19347, NA19332, HG03069, NA20582, NA18997, HG02384, NA20821, NA19074, HG02052, HG02479, HG02614, NA18974, NA19462, HG00589, HG02582, HG03175, HG01979, HG03363, NA20581, HG01063, HG03446, NA19038, HG02067, NA18907, HG02635, HG03875, NA18567, HG03499, NA19078, HG01334, HG03745, HG03789, HG03790, NA12749, HG02182, NA20799, NA18867, HG01953, HG01269, HG01872, HG02688, HG02629, NA18646, HG02075, HG02953, HG03556, HG00409, HG00580, NA19719, HG00448, HG01669, HG02186, HG02481, NA18577, NA19099, NA20509, HG02079, NA20507, NA20513, HG03476, NA18864, HG03240, NA12003, NA19064, HG01464, HG03081, HG02465, HG02837, NA19327, HG01593, NA12399, HG00656, NA19160, NA19655, HG03025, HG02476, NA19916, HG01746, HG01808, NA19070, NA19118, HG02721, NA18984, NA19095, HG03449, HG00251, HG02522, NA19171, HG03557, HG00324, HG03372, HG00288, HG01374, HG03117, HG01522, HG01102, HG01462, HG04006, NA19473, NA20524, HG01631, HG03837, HG01678, HG02574, HG00336, NA19448, NA20502, HG03826, HG00272, HG00345, NA19200, NA19007, HG02095, HG01602, HG02820, HG00136, HG02130, HG02215, NA18519, NA20339, HG02179, HG00361, HG01198, HG01870, HG02610, HG03082, HG02140, HG01610, HG02122, HG03135, HG04225, HG02107, HG03160, HG02854, HG00537, HG03120, HG02250, HG02882, NA07347, NA20787, HG02166, HG02810, HG03760, NA20527, HG01284, NA18534, HG03479, NA18630, HG00956, HG03940, NA12342, HG00978, NA19437, HG03744, NA19114, NA18966, NA11920, HG00171, HG03478, HG03563, NA18501, HG02549, HG00160, HG00457, HG01927, NA10847, NA18603, HG03189, HG01197, HG03057, HG00614, HG01051, HG03133, HG01615, HG03419, HG00368, HG02884, HG00148, HG01537, NA20321, HG03111, NA19019, HG03458, NA19379, HG02676, HG01958, HG02660, HG03103, HG01344, HG01844, HG00280, HG01134, HG01861, HG02613, HG00113, HG03714, NA20798, HG00699, HG03109, NA18943, HG03863, HG03049, HG00269, HG00592, HG02870, HG02982, HG03652, NA12414, NA20320, HG02402, HG03941, HG03162, NA19062, NA19463, NA19085, HG04206, NA19314, HG03451, HG00593, HG01392, NA19390, HG02700, HG03779, NA21097, NA20764, HG00240, HG00308, HG01378, NA18536, HG04164, HG02554, HG00759, HG01398, HG01583, HG03681, NA20127, HG02643, HG02667, HG03052, HG01684, HG01360, HG02143, NA19075, HG01867, HG03887, HG00634, HG03079, HG01187, NA21094, NA19700, NA19082, HG02757, NA12751, HG03869, NA19247, HG03169, NA19380, HG01810, HG02151, HG03126, NA19395, NA19786, NA19080, HG01600, NA19129, HG02537, HG02768, NA21128, HG03397, HG00766, NA18939, HG00185, HG03870, NA20795, HG00255, NA18986, HG02461, NA20753, HG00851, HG02573, HG03934, NA19664, HG00672, HG02017, HG02031, HG02069, HG00102, HG02087, HG00524, HG01630, NA21093, HG00458, HG00599, HG02571, HG03577, NA20813, HG02586, NA19789, NA20355, NA19141, HG02374, HG02624, HG03028, HG01094, NA18597, HG03691, NA19138, NA12272, NA20756, HG01095, HG02128, HG04033, HG03589, NA19201, HG00717, NA20827, HG01801, HG01632, NA20518, NA12889, HG01862, NA20318, NA18544, HG03018, HG03999, NA18614, NA19475, HG03123, HG03708, HG04018, HG00285, HG02408, HG03074, HG01947, HG03258, HG04177, NA20359, HG03077, HG01951, NA19315, NA19756, NA19346, HG00320, NA20904, NA19113, HG02315, HG02555, NA18615, NA19185, HG00376, HG02332, NA21091, HG01890, NA19661, HG04182, HG02367, HG00531, HG02769, NA18629, HG03937, HG02890, HG01868, HG00881, HG01813, NA19152, NA12249, HG02621, HG02165, NA20890, HG01700, HG02116, HG00743, HG04003, HG01052, HG01075, NA18933, NA19404, HG02086, HG02546, HG01205, HG02655, HG00675, HG03437, HG02799, HG02983, HG03410, HG03066, HG02759, HG00310, HG00707, HG03295, HG01098, NA06989, HG02006, NA12340, NA18993, NA18648, NA20511, HG01085, HG02974, HG01492, HG03046, HG03894, HG02887, HG00173, HG01883, NA21130, HG02314, HG00106, HG01461, HG03401, HG03548, NA19648, HG03765, NA11893, NA19108, HG01525, NA18488, NA19474, HG01848, NA19084, HG01348, HG02976
Known GenesKLRC2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628539
Frequency
Sample Size2504
Observed Gain0
Observed Loss850
Observed Complex0
Frequencyn/a


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