A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589559



Internal ID6976887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:248593440..248634296hg38UCSC Ensembl
chr1:248756741..248797597hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3840857
hg1940857
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10379011, essv10378705, essv10378779, essv10378674, essv10378396, essv10378757, essv10378640, essv10379037, essv10378850, essv10378578, essv10378983, essv10378365, essv10379003, essv10378987, essv10378752, essv10378548, essv10378941, essv10378522, essv10378532, essv10378473, essv10378794, essv10378896, essv10378613, essv10379042, essv10378657, essv10378799, essv10379050, essv10378808, essv10378641, essv10378538, essv10378583, essv10378954, essv10378991, essv10378840, essv10378436, essv10378506, essv10378798, essv10378351, essv10378968, essv10378314, essv10378862, essv10379028, essv10378945, essv10378917, essv10378449, essv10378501, essv10378734, essv10378526, essv10378949, essv10378861, essv10378747, essv10378793, essv10378950, essv10378415, essv10378998, essv10378953, essv10378767, essv10379023, essv10378813, essv10378625, essv10378884, essv10378701, essv10379051, essv10378936, essv10378589, essv10379043, essv10378948, essv10378466, essv10378523, essv10378493, essv10378820, essv10378389, essv10378341, essv10378985, essv10378461, essv10378901, essv10378777, essv10378499, essv10378528, essv10378906, essv10378357, essv10378305, essv10378445, essv10379025, essv10378986, essv10378923, essv10379029, essv10378456, essv10379036, essv10378839, essv10378722, essv10378658, essv10378956, essv10378882, essv10378823, essv10378547, essv10378631, essv10378543, essv10378971, essv10378856, essv10378848, essv10378824, essv10378704, essv10378542, essv10378533, essv10378307, essv10378913, essv10379073, essv10378959, essv10378926, essv10378921, essv10378695, essv10378710, essv10378743, essv10378422, essv10378762, essv10378982, essv10378325, essv10378435, essv10378836, essv10378964, essv10378312, essv10378831, essv10378855, essv10378433, essv10378453, essv10378366, essv10378647, essv10378356, essv10378332, essv10378313, essv10378443, essv10378821, essv10378719, essv10378614, essv10378690, essv10378420, essv10378835, essv10378568, essv10378660, essv10378597, essv10378376, essv10378851, essv10378731, essv10378379, essv10378384, essv10378358, essv10378482, essv10378943, essv10378863, essv10378675, essv10379068, essv10378720, essv10378304, essv10378309, essv10378673, essv10378317, essv10378895, essv10378419, essv10378980, essv10378760, essv10378440, essv10378497, essv10378580, essv10378337, essv10378873, essv10378395, essv10378847, essv10378587, essv10378423, essv10378509, essv10378865, essv10378594, essv10378316, essv10378308, essv10378931, essv10378524, essv10378928, essv10378912, essv10379061, essv10378576, essv10378302, essv10378784, essv10378666, essv10378602, essv10378438, essv10378924, essv10378560, essv10378553, essv10378537, essv10378557, essv10378369, essv10378733, essv10378467, essv10378966, essv10378852, essv10378381, essv10378833, essv10378452, essv10378413, essv10378373, essv10379007, essv10378446, essv10378618, essv10378881, essv10378626, essv10379012, essv10378909, essv10378974, essv10378809, essv10378404, essv10378999, essv10378775, essv10378790, essv10378916, essv10378669, essv10378513, essv10378749, essv10378802, essv10378677, essv10378687, essv10378484, essv10378785, essv10378333, essv10378846, essv10378540, essv10379026, essv10378338, essv10378922, essv10378437, essv10379070, essv10378965, essv10378424, essv10378729, essv10378459, essv10378343, essv10378685, essv10378664, essv10378805, essv10379056, essv10378558, essv10378787, essv10378546, essv10378981, essv10378919, essv10378741, essv10378717, essv10378703, essv10378988, essv10378978, essv10378405, essv10378310, essv10378944, essv10378709, essv10378403, essv10378925, essv10378773, essv10378694, essv10378905, essv10378619, essv10378951, essv10378363, essv10378663, essv10378495, essv10378398, essv10378324, essv10378610, essv10378550, essv10378577, essv10378939, essv10378529, essv10379010, essv10378780, essv10378655, essv10378551, essv10378334, essv10378979, essv10378659, essv10378555, essv10378348, essv10378927, essv10378339, essv10378879, essv10379045, essv10378960, essv10378828, essv10378650, essv10378853, essv10378868, essv10378393, essv10378838, essv10378825, essv10378331, essv10378756, essv10378707, essv10378425, essv10378360, essv10378644, essv10378512, essv10378408, essv10378864, essv10378463, essv10378516, essv10378478, essv10378498, essv10378527, essv10378876, essv10379035, essv10378716, essv10378586, essv10379009, essv10378680, essv10378570, essv10378387, essv10378346, essv10378451, essv10378934, essv10378394, essv10378470, essv10378811, essv10378652, essv10378447, essv10378860, essv10379071, essv10378849, essv10378487, essv10378819, essv10378801, essv10378875, essv10378645, essv10378386, essv10379031, essv10378920, essv10378531, essv10378989, essv10378328, essv10378792, essv10378600, essv10378388, essv10378891, essv10378514, essv10378344, essv10379015, essv10378706, essv10378616, essv10378771, essv10378401, essv10378350, essv10378829, essv10378765, essv10378702, essv10378624, essv10378349, essv10378816, essv10378521, essv10378326, essv10378347, essv10378933, essv10378480, essv10378788, essv10378539, essv10378763, essv10378319, essv10378854, essv10378635, essv10378455, essv10378807, essv10378364, essv10378878, essv10378372, essv10378441, essv10379038, essv10378483, essv10378744, essv10378634, essv10378606, essv10378477, essv10378412, essv10378993, essv10378604, essv10378942, essv10379074, essv10378837, essv10378889, essv10378563, essv10378380, essv10378575, essv10378715, essv10378632, essv10378574, essv10378375, essv10378827, essv10378795, essv10379014, essv10378651, essv10378330, essv10378774, essv10378406, essv10379058, essv10378399, essv10379033, essv10378609, essv10378434, essv10378628, essv10379039, essv10378872, essv10378859, essv10378472, essv10378409, essv10379004, essv10378892, essv10378417, essv10378724, essv10378465, essv10378444, essv10378335, essv10378963, essv10378692, essv10379055, essv10378758, essv10378545, essv10378500, essv10378556, essv10378776, essv10378676, essv10378573, essv10378636, essv10378778, essv10378874, essv10378402, essv10378354, essv10378585, essv10378708, essv10378668, essv10378374, essv10378503, essv10378937, essv10378797, essv10378688, essv10378643, essv10378541, essv10378698, essv10378843, essv10378584, essv10379002, essv10378683, essv10379063, essv10378781, essv10378902, essv10378738, essv10378301, essv10378730, essv10378900, essv10378469, essv10379016, essv10378525, essv10378457, essv10378886, essv10378345, essv10379024, essv10378615, essv10378940, essv10378492, essv10379034, essv10378893, essv10378572, essv10378554, essv10378562, essv10378502, essv10378654, essv10378898, essv10378686, essv10378579, essv10378969, essv10378505, essv10379020, essv10378800, essv10378488, essv10379044, essv10378593, essv10378782, essv10378491, essv10378601, essv10378967, essv10378842, essv10378844, essv10378947, essv10378571, essv10378530, essv10378768, essv10378975, essv10378411, essv10378367, essv10378693, essv10378599, essv10378518, essv10378508, essv10378315, essv10379047, essv10378996, essv10378649, essv10378479, essv10378582, essv10378997, essv10378486, essv10378371, essv10378596, essv10378342, essv10378699, essv10378994, essv10378474, essv10378378, essv10378841, essv10378607, essv10379057, essv10378561, essv10378462, essv10378678, essv10378786, essv10378935, essv10378430, essv10378803, essv10378353, essv10378311, essv10379019, essv10378869, essv10378431, essv10378368, essv10378629, essv10378458, essv10378711, essv10378681, essv10378897, essv10378700, essv10378581, essv10378766, essv10378712, essv10378932, essv10378569, essv10378871, essv10378962, essv10378992, essv10378915, essv10379052, essv10378769, essv10378418, essv10378726, essv10378642, essv10378361, essv10378857, essv10379049, essv10378742, essv10378448, essv10378382, essv10378595, essv10378427, essv10378489, essv10378977, essv10378432, essv10378421, essv10378392, essv10378429, essv10378588, essv10378468, essv10379054, essv10378870, essv10378321, essv10378832, essv10378725, essv10379021, essv10378682, essv10378671, essv10378656, essv10379032, essv10378670, essv10378510, essv10379013, essv10378770, essv10378592, essv10378450, essv10378723, essv10378930, essv10378383, essv10378359, essv10378481, essv10378633, essv10378520, essv10379030, essv10378867, essv10378973, essv10378684, essv10378883, essv10378764, essv10378329, essv10378806, essv10378390, essv10378565, essv10378796, essv10378627, essv10378611, essv10378697, essv10378608, essv10378564, essv10378737, essv10378534, essv10379006, essv10378603, essv10378929, essv10378648, essv10378858, essv10378320, essv10378888, essv10378713, essv10378566, essv10378903, essv10378517, essv10378391, essv10378318, essv10378815, essv10378810, essv10378623, essv10378552, essv10378303, essv10378646, essv10378761, essv10378511, essv10378377, essv10378818, essv10378754, essv10378751, essv10378407, essv10379066, essv10378504, essv10378485, essv10378976, essv10378890, essv10378679, essv10379067, essv10379017, essv10378507, essv10378471, essv10378746, essv10379022, essv10378894, essv10378885, essv10378336, essv10378789, essv10378454, essv10378637, essv10378544, essv10378426, essv10378718, essv10378400, essv10378908, essv10378494, essv10379018, essv10378475, essv10378918, essv10378515, essv10378910, essv10378410, essv10378727, essv10378322, essv10378822, essv10378804, essv10378621, essv10379005, essv10379027, essv10378745, essv10378464, essv10378661, essv10378714, essv10378630, essv10378442, essv10378414, essv10378984, essv10379001, essv10378496, essv10379040, essv10378817, essv10378970, essv10378352, essv10378460, essv10378519, essv10378397, essv10378327, essv10378972, essv10378946, essv10378899, essv10378728, essv10378639, essv10379069, essv10378887, essv10378791, essv10378612, essv10379064, essv10378535, essv10379065, essv10378957, essv10378605, essv10378732, essv10378990, essv10378907, essv10378323, essv10378416, essv10378995, essv10378759, essv10379046, essv10378880, essv10378783, essv10378362, essv10378665, essv10378866, essv10378306, essv10379041, essv10378952, essv10378696, essv10378355, essv10378961, essv10378750, essv10378536, essv10378490, essv10378439, essv10378772, essv10378739, essv10378662, essv10378617, essv10378340, essv10379000, essv10378620, essv10378753, essv10378736, essv10378549, essv10378812, essv10378567, essv10378591, essv10379053, essv10378740, essv10378689, essv10378877, essv10378667, essv10378476, essv10378721, essv10379060, essv10378428, essv10379059, essv10378598, essv10378911, essv10378672, essv10378638, essv10378958, essv10378955, essv10378914, essv10378904, essv10379048, essv10379072, essv10378748, essv10378830, essv10378590, essv10378370, essv10379008, essv10378755, essv10378622, essv10378735, essv10378826, essv10378938, essv10378845, essv10378653, essv10378559, essv10379062, essv10378834, essv10378691, essv10378385, essv10378814
SamplesHG03886, HG01986, HG01985, HG00189, NA20339, NA19028, HG03593, HG00650, HG02496, HG03228, NA19664, NA19399, HG01031, HG04222, HG03175, HG03517, HG03247, NA21100, HG03717, HG03241, HG02419, HG02836, HG02798, HG02691, HG03521, NA18878, HG02050, NA18504, HG03295, NA20864, NA19377, HG02215, HG02888, HG02688, HG02154, NA21128, HG03372, HG01704, HG03069, NA20359, HG02769, NA20806, NA12813, HG04059, NA19171, HG02690, NA21130, HG04206, NA20756, HG02756, HG02521, NA18558, HG03874, HG02645, NA11918, HG03234, HG01365, NA19384, NA20291, HG03520, HG00632, NA18868, HG03212, HG01849, HG02642, HG01973, HG02588, NA20412, HG04047, NA19239, NA18985, HG03585, HG00323, NA18867, NA20515, HG02134, HG02879, HG01164, NA20904, NA18605, HG01847, HG03132, HG01867, HG00266, NA19070, HG03511, HG03907, HG03088, HG02380, NA12878, HG00657, HG01879, NA19717, NA19043, HG03711, HG01845, HG01498, HG03775, HG03159, HG02014, NA18572, NA18948, HG01796, HG02878, NA12234, HG01630, HG01102, HG03829, HG00690, HG03951, NA12829, NA11840, HG01613, HG03446, HG01130, HG03024, HG03451, HG02666, NA19452, HG03006, NA18523, HG00099, NA12778, HG04176, NA19395, HG02896, HG01988, HG00126, NA19625, HG02675, HG00376, HG03934, HG00611, HG00382, NA19652, NA19440, HG04216, HG02667, HG00336, NA18517, NA19712, NA19434, HG03875, HG03539, HG03708, HG02355, HG02721, NA20870, HG03458, HG03117, NA19331, HG02391, HG01866, HG03869, HG02464, HG01798, NA20281, HG02137, HG00662, HG03103, NA20888, HG01861, HG01785, NA19328, NA19117, HG02700, HG02128, HG01765, HG03157, HG02367, HG01935, HG01912, NA19223, NA19351, HG00267, HG02768, NA19102, NA18873, NA18876, HG04171, HG03470, HG01794, HG00274, NA19121, HG02947, NA19129, HG02851, NA20827, HG02643, NA19429, HG00581, HG03271, HG02760, HG01507, HG00593, HG00626, HG02614, HG03559, NA19648, NA19700, NA18924, NA19466, NA11995, HG03960, HG01079, HG02648, NA18561, NA19704, HG03057, HG01188, NA19734, HG02852, HG01374, NA20813, NA18877, NA12045, HG03558, HG04094, HG01305, HG02476, NA19819, HG02058, HG00452, NA21115, HG04164, NA20346, HG00150, HG03172, HG01924, NA18550, HG03086, HG00109, HG03796, HG03499, NA20890, HG00689, HG02541, HG00173, NA18635, HG04144, HG00458, HG00330, HG02549, HG01945, NA19131, HG00736, HG00610, NA19197, HG03246, HG03105, HG02655, NA19023, HG01354, NA19054, HG03629, NA18498, HG03479, HG03762, NA20541, NA19038, NA12761, HG03868, HG01134, NA12282, HG03460, NA19651, HG02703, HG02395, HG00106, NA20896, NA20340, HG02885, HG03777, HG01176, NA19159, HG03352, HG00182, NA19026, NA19725, NA18520, HG02946, HG03055, HG00178, HG03832, NA18973, HG03369, NA19451, HG00675, HG03169, HG01603, NA20818, HG00188, HG02166, HG02570, NA19247, NA19657, HG03160, HG02334, HG02697, NA19462, NA19327, HG01612, HG02450, HG02953, HG02307, NA19788, NA21118, HG01880, NA18976, HG02497, HG02789, HG02555, HG03563, HG01161, NA19000, HG00844, HG02817, NA20859, NA18499, HG03397, HG03078, HG02604, HG02048, NA19031, HG01383, HG04189, HG02283, HG03854, NA06985, HG01403, NA19756, NA19160, NA18536, HG03991, HG02586, HG01990, HG00128, HG03567, NA20296, HG02255, NA19401, NA19308, NA18978, HG04134, NA11881, HG03461, NA18559, HG03367, NA12775, HG02501, HG00565, NA18950, HG02314, HG01623, HG03433, HG03127, HG00607, HG01260, NA18591, HG03557, HG03419, HG04003, NA19818, HG03432, HG01606, HG03039, NA19248, HG03442, NA20868, NA19438, HG03646, NA19472, HG03025, HG02032, HG02938, HG01085, NA21101, NA12830, HG03258, HG02676, NA19726, HG03538, HG01883, HG00372, HG00252, HG03445, HG02861, NA18505, HG03611, HG00759, HG01886, HG02808, HG02629, HG02343, HG00437, HG01976, NA19394, NA18745, HG02574, NA19701, NA20761, HG02944, HG03484, HG02628, HG00143, HG02481, NA19909, HG00102, NA12286, HG01624, NA19066, HG03052, NA18508, HG00358, HG02026, HG03111, NA20514, HG01815, HG02122, HG03115, HG02012, HG00244, HG00181, HG02804, HG03298, NA20294, HG03229, NA20332, HG02589, HG02536, HG00097, HG03999, NA18510, NA12399, NA18602, HG03478, HG00693, HG03009, NA19107, NA21135, NA18519, HG02621, HG02016, HG03168, HG03452, HG02105, HG00599, NA20774, NA18923, HG00238, HG02860, HG02085, NA19062, HG04182, HG03578, NA19457, HG02054, NA20287, HG01372, NA19904, HG02816, NA11930, NA19041, NA12275, HG01069, HG02252, HG00148, NA21109, HG00113, NA11994, HG03691, NA18748, NA18966, HG02190, HG00118, HG02427, HG02545, HG01058, NA20342, HG02623, HG03394, HG02477, HG00253, NA21105, NA18539, HG04075, NA20318, NA19027, HG01256, HG01124, NA18645, HG02716, HG03343, HG02820, NA19091, HG03363, HG00380, HG03714, HG00332, HG01789, NA18933, NA19984, HG01882, HG00132, NA20314, HG03457, HG00556, NA20862, HG00583, HG03575, HG01345, HG01077, NA18871, HG03805, HG02508, HG01149, NA18534, HG00740, HG03967, NA19654, HG03472, NA18573, NA20581, NA19042, HG03388, HG03643, HG01101, HG03953, HG01497, NA19099, HG02783, NA18555, NA18570, HG02594, HG00240, HG02568, NA19012, HG03064, NA19017, NA19375, NA18632, NA21117, NA19149, HG03437, NA20276, HG02010, HG02220, HG01878, NA20815, HG02790, HG00734, HG01396, NA20527, NA20362, HG02982, HG00473, HG02179, HG02274, HG03304, HG02317, HG01489, HG02694, HG02095, HG04140, HG03097, HG04014, HG02107, HG03063, HG03060, NA21133, NA19185, HG01600, HG00280, NA19116, NA19711, HG01468, HG00728, NA18983, HG02774, NA19030, HG02763, NA18957, HG02855, NA11892, NA19312, HG02778, HG02805, HG04153, HG03439, NA19676, NA21110, HG02890, NA19141, HG03366, NA19222, HG02610, HG00231, NA11829, HG03548, HG01773, HG00351, NA19914, HG00187, NA20274, HG02337, HG02318, HG01280, NA21092, NA18917, HG02891, NA19795, HG00566, HG03895, HG00179, HG03792, HG03944, HG03836, HG02895, NA07357, HG03199, NA18967, HG00622, NA19374, HG03464, NA19201, HG02811, HG03135, NA20850, HG03490, HG01488, NA20586, NA19119, NA20317, HG03370, HG03885, NA19138, HG00369, HG01982, HG02922, HG02111, HG01242, HG03079, HG02489, NA18611, HG02281, HG03189, HG02512, HG02067, NA06984, HG02573, HG03595, NA19917, NA19137, HG02461, HG01281, NA19731, HG03195, HG02571, NA20811, HG00159, HG03058, HG02180, NA19445, NA19200, HG03048, NA18648, HG01183, HG01139, NA20854, HG03844, HG02977, HG03054, NA19437, HG02233, NA18934, HG00145, HG01247, HG01104, NA19152, HG04107, HG03291, NA19913, HG03636, NA19236, HG02322, NA20895, NA18516, NA18915, HG00320, HG01989, HG00598, HG04019, HG03124, HG00708, HG03311, HG01390, HG03085, HG01073, HG00273, NA19774, HG03136, NA21141, NA18856, HG02649, NA19113, HG02884, HG01791, HG02086, HG00117, HG00613, NA12827, HG03634, NA19257, HG00276, HG02585, NA19095, HG00410, HG02484, NA19436, NA19035, NA21113, NA19206, NA18909, HG03809, HG00285, NA19321, HG02799, HG01958, HG00278, HG02651, HG00623, NA19380, NA19144, NA19334, HG01494, NA19439, HG01933, NA19467, NA19741, NA20797, NA19085, HG03108, HG00269, HG04141, NA20357, HG03565, HG01556, NA19060, HG00656, HG02392, HG00123, HG01089, HG03615, HG02239, HG03410, HG02679, HG00234, NA19213, NA20528, NA20886, HG03162, HG03882, NA18488, HG03376, HG03072, NA07000, HG01869, NA18522, NA21104, HG03118, HG03129, HG02006, NA18622, HG00362
Known GenesOR2T10, OR2T11
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589559
Frequency
Sample Size2504
Observed Gain0
Observed Loss774
Observed Complex0
Frequencyn/a


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