A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628538



Internal ID6668681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:10428701..10444437hg38UCSC Ensembl
Innerchr12:10429201..10443937hg38UCSC Ensembl
Outerchr12:10427701..10445437hg38UCSC Ensembl
chr12:10581300..10597036hg19UCSC Ensembl
Innerchr12:10581800..10596536hg19UCSC Ensembl
Outerchr12:10580300..10598036hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3815737
hg1915737
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14374546, essv14374953, essv14374607, essv14374631, essv14375170, essv14374582, essv14374801, essv14374985, essv14374528, essv14374652, essv14374764, essv14374726, essv14375246, essv14375167, essv14374935, essv14375015, essv14375220, essv14374781, essv14374939, essv14374827, essv14374960, essv14374570, essv14375006, essv14374748, essv14374782, essv14374711, essv14374840, essv14375314, essv14374692, essv14375104, essv14374901, essv14375176, essv14374548, essv14375219, essv14374739, essv14375013, essv14374762, essv14374718, essv14374927, essv14375081, essv14374500, essv14375069, essv14375056, essv14374710, essv14374973, essv14375286, essv14375211, essv14375147, essv14374518, essv14374730, essv14374917, essv14375130, essv14374654, essv14374938, essv14374667, essv14374627, essv14374874, essv14374933, essv14375280, essv14374535, essv14374919, essv14374815, essv14374918, essv14375262, essv14375189, essv14374660, essv14374703, essv14374860, essv14374880, essv14375001, essv14374729, essv14375252, essv14374514, essv14375196, essv14375065, essv14374676, essv14375240, essv14374534, essv14374641, essv14374949, essv14374540, essv14375232, essv14375241, essv14374875, essv14374916, essv14374946, essv14374507, essv14375098, essv14374968, essv14375182, essv14374999, essv14375214, essv14374695, essv14375315, essv14374593, essv14374603, essv14374823, essv14374961, essv14374527, essv14375274, essv14374986, essv14375030, essv14375149, essv14374889, essv14375185, essv14374882, essv14374636, essv14374704, essv14374886, essv14374495, essv14375008, essv14374755, essv14374628, essv14375121, essv14374804, essv14374979, essv14374771, essv14374998, essv14375235, essv14374608, essv14375131, essv14374569, essv14374555, essv14374563, essv14374799, essv14375266, essv14374691, essv14375101, essv14374820, essv14375313, essv14374481, essv14375023, essv14374861, essv14374623, essv14374852, essv14374727, essv14374538, essv14374596, essv14375127, essv14374757, essv14375036, essv14375228, essv14374831, essv14374536, essv14374982, essv14375073, essv14374510, essv14374742, essv14375157, essv14374822, essv14374991, essv14375209, essv14374521, essv14374522, essv14374899, essv14375029, essv14374580, essv14374488, essv14375158, essv14375259, essv14375268, essv14375050, essv14374921, essv14375296, essv14374995, essv14374634, essv14375103, essv14374624, essv14375166, essv14374732, essv14374826, essv14374787, essv14375165, essv14374585, essv14374635, essv14374657, essv14374675, essv14374620, essv14375287, essv14375226, essv14374858, essv14375082, essv14374699, essv14374686, essv14375223, essv14374791, essv14375003, essv14374642, essv14375181, essv14375113, essv14374850, essv14375150, essv14374915, essv14375154, essv14374506, essv14375124, essv14375308, essv14374678, essv14375222, essv14374752, essv14374838, essv14375200, essv14374856, essv14375141, essv14375194, essv14374516, essv14375095, essv14374844, essv14375067, essv14375217, essv14374542, essv14374625, essv14375114, essv14375105, essv14374790, essv14374712, essv14375275, essv14374760, essv14375285, essv14374559, essv14374904, essv14375132, essv14374895, essv14374564, essv14375033, essv14375102, essv14375108, essv14374720, essv14374832, essv14375064, essv14374666, essv14374587, essv14374843, essv14374602, essv14375057, essv14375077, essv14375257, essv14374700, essv14374765, essv14374811, essv14374903, essv14375000, essv14375028, essv14375032, essv14374775, essv14375212, essv14374987, essv14375175, essv14374833, essv14374821, essv14374835, essv14374977, essv14374568, essv14374871, essv14374489, essv14375155, essv14375276, essv14374524, essv14374994, essv14374806, essv14374914, essv14374594, essv14374611, essv14374959, essv14375048, essv14374499, essv14375202, essv14374728, essv14375205, essv14375288, essv14375304, essv14375178, essv14374483, essv14374539, essv14375096, essv14374813, essv14374759, essv14374983, essv14375055, essv14374870, essv14374511, essv14374551, essv14374993, essv14374541, essv14374744, essv14375293, essv14374549, essv14374924, essv14375040, essv14375247, essv14374800, essv14375021, essv14375192, essv14374937, essv14375004, essv14375271, essv14374562, essv14374819, essv14374855, essv14374862, essv14374629, essv14374792, essv14375255, essv14374577, essv14374788, essv14374723, essv14374947, essv14374615, essv14374873, essv14375148, essv14375187, essv14374498, essv14374646, essv14374680, essv14374682, essv14375115, essv14375215, essv14374842, essv14374920, essv14374814, essv14375156, essv14374966, essv14374552, essv14375195, essv14374494, essv14374597, essv14374567, essv14374722, essv14374758, essv14374894, essv14374803, essv14375145, essv14375135, essv14374517, essv14374590, essv14374659, essv14375310, essv14374650, essv14375078, essv14375199, essv14374633, essv14374767, essv14375249, essv14375229, essv14374955, essv14374906, essv14374951, essv14375084, essv14375007, essv14374545, essv14375019, essv14374673, essv14375129, essv14375164, essv14375063, essv14375184, essv14375260, essv14375054, essv14374735, essv14374964, essv14375037, essv14375089, essv14374786, essv14375107, essv14375179, essv14374963, essv14375061, essv14375191, essv14374674, essv14374713, essv14375041, essv14374617, essv14374981, essv14374588, essv14374907, essv14375139, essv14374662, essv14374867, essv14375116, essv14374736, essv14374520, essv14374810, essv14374846, essv14375088, essv14374576, essv14374975, essv14375027, essv14375079, essv14374816, essv14375052, essv14375117, essv14374944, essv14375144, essv14374701, essv14375171, essv14375208, essv14375270, essv14374501, essv14375162, essv14375250, essv14374566, essv14375213, essv14374487, essv14374496, essv14374962, essv14374702, essv14375072, essv14375136, essv14374830, essv14375094, essv14375267, essv14374515, essv14374877, essv14375305, essv14374809, essv14374685, essv14374690, essv14375298, essv14375302, essv14374948, essv14375099, essv14374705, essv14375273, essv14374669, essv14374828, essv14374851, essv14375009, essv14375049, essv14375138, essv14375137, essv14375183, essv14374825, essv14375014, essv14374529, essv14374648, essv14374677, essv14375277, essv14374581, essv14374747, essv14374798, essv14375206, essv14374847, essv14374696, essv14374502, essv14374578, essv14374952, essv14375070, essv14375092, essv14375122, essv14374738, essv14375042, essv14375254, essv14374708, essv14375307, essv14374929, essv14374841, essv14375080, essv14374575, essv14374592, essv14374612, essv14374693, essv14374707, essv14374766, essv14374872, essv14374547, essv14374688, essv14374616, essv14374679, essv14374715, essv14375044, essv14374513, essv14374681, essv14375248, essv14374706, essv14375071, essv14375251, essv14374789, essv14374967, essv14375140, essv14374869, essv14374976, essv14375198, essv14374579, essv14375060, essv14375163, essv14375083, essv14375242, essv14375258, essv14374773, essv14374868, essv14375253, essv14374486, essv14374941, essv14374925, essv14374978, essv14374857, essv14374989, essv14375290, essv14375076, essv14374956, essv14375238, essv14374859, essv14375282, essv14374491, essv14374543, essv14374647, essv14374931, essv14374984, essv14375085, essv14374649, essv14375281, essv14374639, essv14374753, essv14375283, essv14374997, essv14374637, essv14375123, essv14374554, essv14374584, essv14375046, essv14374824, essv14375172, essv14374530, essv14374774, essv14374896, essv14375125, essv14375292, essv14374632, essv14374751, essv14374897, essv14374571, essv14375038, essv14375301, essv14374746, essv14374923, essv14375111, essv14374558, essv14374776, essv14374795, essv14375236, essv14375239, essv14374586, essv14374883, essv14375230, essv14375265, essv14375227, essv14374802, essv14374950, essv14374893, essv14375091, essv14374876, essv14374892, essv14375002, essv14375207, essv14375086, essv14374936, essv14374834, essv14374523, essv14374890, essv14375017, essv14375066, essv14374793, essv14374837, essv14375297, essv14374965, essv14374665, essv14374854, essv14375031, essv14374879, essv14374863, essv14375146, essv14375312, essv14374656, essv14374492, essv14374671, essv14374922, essv14375016, essv14374600, essv14374606, essv14374891, essv14374745, essv14375143, essv14375142, essv14374526, essv14374888, essv14375300, essv14375204, essv14374980, essv14374605, essv14374694, essv14374670, essv14374717, essv14375012, essv14375151, essv14375279, essv14374770, essv14374497, essv14374618, essv14375093, essv14374725, essv14374754, essv14374553, essv14375245, essv14374645, essv14375225, essv14374508, essv14374503, essv14374583, essv14374655, essv14374772, essv14374532, essv14375051, essv14374519, essv14374525, essv14374878, essv14374599, essv14374908, essv14375309, essv14375018, essv14375152, essv14374664, essv14375160, essv14375272, essv14374484, essv14374926, essv14375234, essv14374990, essv14375058, essv14374504, essv14374970, essv14374797, essv14374887, essv14374614, essv14374485, essv14374560, essv14375062, essv14374572, essv14374805, essv14375075, essv14374778, essv14374940, essv14375264, essv14374509, essv14375126, essv14374740, essv14375134, essv14375109, essv14374945, essv14374969, essv14375128, essv14374777, essv14374829, essv14375119, essv14374817, essv14375133, essv14375231, essv14374609, essv14375153, essv14374853, essv14374900, essv14375090, essv14375120, essv14375169, essv14374493, essv14374683, essv14374928, essv14374885, essv14374930, essv14374601, essv14374573, essv14374796, essv14374849, essv14374731, essv14374643, essv14374716, essv14375026, essv14375005, essv14374595, essv14374626, essv14375034, essv14374808, essv14375197, essv14374783, essv14374988, essv14374784, essv14374974, essv14375216, essv14375294, essv14374750, essv14374785, essv14374884, essv14374992, essv14374836, essv14374482, essv14374512, essv14374769, essv14375303, essv14374589, essv14375022, essv14374658, essv14374761, essv14374709, essv14374865, essv14375043, essv14375087, essv14375256, essv14374668, essv14375112, essv14375210, essv14375289, essv14374698, essv14374610, essv14375039, essv14375106, essv14374621, essv14374622, essv14375059, essv14374934, essv14374749, essv14375306, essv14374630, essv14375299, essv14374721, essv14374724, essv14374689, essv14375024, essv14375261, essv14374604, essv14375100, essv14375173, essv14374911, essv14374505, essv14375011, essv14374839, essv14374697, essv14374684, essv14374613, essv14374640, essv14375291, essv14375193, essv14375097, essv14374537, essv14375295, essv14374905, essv14374845, essv14374619, essv14374866, essv14374910, essv14374714, essv14374996, essv14374556, essv14374737, essv14374734, essv14375035, essv14375218, essv14374864, essv14375045, essv14374490, essv14375284, essv14374743, essv14374818, essv14374544, essv14375068, essv14375224, essv14374663, essv14374972, essv14374565, essv14374794, essv14374779, essv14375010, essv14374902, essv14374957, essv14375316, essv14374733, essv14375190, essv14374598, essv14374913, essv14375311, essv14374557, essv14375244, essv14374719, essv14374958, essv14375020, essv14374672, essv14374756, essv14374971, essv14375161, essv14375159, essv14375233, essv14375269, essv14375237, essv14375177, essv14375221, essv14374561, essv14374909, essv14375074, essv14375025, essv14374638, essv14374763, essv14375047, essv14375203, essv14374848, essv14375263, essv14374687, essv14374807, essv14375278, essv14375188, essv14374812, essv14374780, essv14374954, essv14374661, essv14375110, essv14375168, essv14374898, essv14375180, essv14375053, essv14375201, essv14374942, essv14374651, essv14374550, essv14374943, essv14374881, essv14374912, essv14374932, essv14374574, essv14374768, essv14374644, essv14374533, essv14374591, essv14374653, essv14374741, essv14375243, essv14375174, essv14374531, essv14375186, essv14375118
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, 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, 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, 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, HG01461, HG03401, HG02156, HG02760, HG03548, NA19648, HG00651, HG03538, HG03765, NA19678, NA11893, NA19108, HG00331, HG01990, HG01525, HG02049, HG04100, NA18488, NA19474, HG01848, HG01871, NA19084, HG01348, HG02976, HG01841, HG01843, NA12044, NA19147, HG00188, HG01504, HG03159, HG03756, HG01133, HG01812, HG03376, HG04076, HG00342, NA19117, NA21106, HG02836, HG00543, HG03846, HG00339, HG01924, HG04098, NA20585, HG02981, NA18912, NA19982, NA20854, HG01086, HG03470, NA20533, HG01363, HG02684, 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, NA18638, NA19066, HG02763, NA20541, HG00150, HG01556, HG03965, HG00419, HG02851, HG00258, HG02220, HG03024, 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, 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, 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, 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, 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, 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, HG02887, HG00173, HG01883, NA21130, HG02314, HG00106
Known GenesKLRC2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628538
Frequency
Sample Size2504
Observed Gain0
Observed Loss836
Observed Complex0
Frequencyn/a


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