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 Variantsessv14374632, essv14374994, essv14374827, essv14375181, essv14374926, essv14374513, essv14374846, essv14374795, essv14374652, essv14375053, essv14374587, essv14375099, essv14375208, essv14374695, essv14375138, essv14375192, essv14375111, essv14374731, essv14375308, essv14375242, essv14374488, essv14375123, essv14374929, essv14374515, essv14374564, essv14374961, essv14375196, essv14374599, essv14374928, essv14374828, essv14374629, essv14374898, essv14374788, essv14375032, essv14374998, essv14374622, essv14374953, essv14374529, essv14375216, essv14374918, essv14374615, essv14375240, essv14374903, essv14374772, essv14375179, essv14374848, essv14374840, essv14375003, essv14375234, essv14375164, essv14374742, essv14374945, essv14375061, essv14374805, essv14375235, essv14374634, essv14374738, essv14375126, essv14374908, essv14374754, essv14374519, essv14374970, essv14374649, essv14374921, essv14374796, essv14374524, essv14374835, essv14374525, essv14375180, essv14374745, essv14374611, essv14375093, essv14375201, essv14374732, essv14374847, essv14374780, essv14375081, essv14374597, essv14374690, essv14374752, essv14374486, essv14375246, essv14374576, essv14374500, essv14374720, essv14374533, essv14375302, essv14374612, essv14374927, essv14375020, essv14374679, essv14374665, essv14375279, essv14374842, essv14374514, essv14374645, essv14374650, essv14375064, essv14375247, essv14375203, essv14375287, essv14375264, essv14374997, essv14375158, essv14374935, essv14375117, essv14374844, essv14374495, essv14374988, essv14374925, essv14375109, essv14374995, essv14375100, essv14374762, essv14375229, essv14374765, essv14374721, essv14375188, essv14374761, essv14374701, essv14374577, essv14375226, essv14374874, essv14374719, essv14375202, essv14375250, essv14374850, essv14374750, essv14374811, essv14374825, essv14374684, essv14374798, essv14374823, essv14374585, essv14375185, essv14375143, essv14374974, essv14375083, essv14374625, essv14374623, essv14375260, essv14375152, essv14375182, essv14375058, essv14374655, essv14374605, essv14374662, essv14375233, essv14375002, essv14375115, essv14375103, essv14374941, essv14374999, essv14374653, essv14374814, essv14374849, essv14374579, essv14374555, essv14374888, essv14374677, essv14375095, essv14375013, essv14374604, essv14375286, essv14375054, essv14375277, essv14374680, essv14374906, essv14374558, essv14374570, essv14374503, essv14374854, essv14374744, essv14374937, essv14374559, essv14375128, essv14374920, essv14374569, essv14374901, essv14374958, essv14374775, essv14374723, essv14374881, essv14374545, essv14375150, essv14375298, essv14375238, essv14374867, essv14374969, essv14374916, essv14374717, essv14374707, essv14374673, essv14374601, essv14374917, essv14375130, essv14375311, essv14375025, essv14374885, essv14374975, essv14375222, essv14374843, essv14375256, essv14374930, essv14374557, essv14375131, essv14374730, essv14374714, essv14375149, essv14375114, essv14375055, essv14374562, essv14374781, essv14374586, essv14374973, essv14374589, essv14374868, essv14374681, essv14375097, essv14374904, essv14374863, essv14375195, essv14375108, essv14374864, essv14374710, essv14374637, essv14375147, essv14374542, essv14374859, essv14374853, essv14375168, essv14374728, essv14374981, essv14374499, essv14375091, essv14374708, essv14374617, essv14374590, essv14374940, essv14374774, essv14374826, essv14375072, essv14375016, essv14374561, essv14374547, essv14375295, essv14375071, essv14374992, essv14374839, essv14375291, essv14375137, essv14374872, essv14374581, essv14374806, essv14374978, essv14374727, essv14375230, essv14375036, essv14374511, essv14375047, essv14374536, essv14375267, essv14374530, essv14375044, essv14375067, essv14374644, essv14375262, essv14374968, essv14374971, essv14374740, essv14374865, essv14375014, essv14374947, essv14375265, essv14374813, essv14375122, essv14374824, essv14374540, essv14374799, essv14374523, essv14374894, essv14375199, essv14374785, essv14375178, essv14374993, essv14374663, essv14375228, essv14374554, essv14374895, essv14374932, essv14375198, essv14375102, essv14375142, essv14374552, essv14375285, essv14374954, essv14374620, essv14374560, essv14375223, essv14375000, essv14374948, essv14375043, essv14374621, essv14375263, essv14375217, essv14375104, essv14374725, essv14374683, essv14374938, essv14374779, essv14374619, essv14374595, essv14374804, essv14374638, essv14374640, essv14374539, essv14375028, essv14375120, essv14375033, essv14374914, essv14375077, essv14374880, essv14375090, essv14375107, essv14375001, essv14375280, essv14374986, essv14374628, essv14375255, essv14375059, essv14374819, essv14374484, essv14374700, essv14374548, essv14374602, essv14374980, essv14375176, essv14375193, essv14374520, essv14374501, essv14374544, essv14375162, essv14374651, essv14375276, essv14375296, essv14375155, essv14374696, essv14374642, essv14374873, essv14375300, essv14375293, essv14375065, essv14375175, essv14374685, essv14375008, essv14374967, essv14375177, essv14374766, essv14374836, essv14375231, essv14374851, essv14375172, essv14374563, essv14374704, essv14374810, essv14374664, essv14374518, essv14375204, essv14375221, essv14374931, essv14374746, essv14374608, essv14374759, essv14375292, essv14374482, essv14374957, essv14374893, essv14374626, essv14374698, essv14375194, essv14374699, essv14375163, essv14375191, essv14375110, essv14374510, essv14375290, essv14375251, essv14374834, essv14374692, essv14374656, essv14374877, essv14374976, essv14375281, essv14374734, essv14375237, essv14375041, essv14375092, essv14374584, essv14375253, essv14374616, essv14375252, essv14374936, essv14375113, essv14375211, essv14374987, essv14374661, essv14374687, essv14375004, essv14375224, essv14374990, essv14375094, essv14375309, essv14375050, essv14375042, essv14375030, essv14374607, essv14374764, essv14375098, essv14375069, essv14374786, essv14375200, essv14374724, essv14375307, essv14375085, essv14375005, essv14374582, essv14374946, essv14374809, essv14374800, essv14375022, essv14374876, essv14374654, essv14375189, essv14375009, essv14374705, essv14374571, essv14374636, essv14374481, essv14374829, essv14375301, essv14374739, essv14374726, essv14374526, essv14374966, essv14374648, essv14374942, essv14375312, essv14375271, essv14375209, essv14374770, essv14374496, essv14374896, essv14374567, essv14375080, essv14374549, essv14375056, essv14374543, essv14374933, essv14375096, essv14374833, essv14374909, essv14374858, essv14374509, essv14374485, essv14375310, essv14375144, essv14375232, essv14375187, essv14374609, essv14374575, essv14375284, essv14374991, essv14374905, essv14375212, essv14374879, essv14375190, essv14374711, essv14375197, essv14374778, essv14375087, essv14375068, essv14374546, essv14375057, essv14374627, essv14375241, essv14375225, essv14374703, essv14375305, essv14374870, essv14374777, essv14374596, essv14375289, essv14374674, essv14374749, essv14375171, essv14375105, essv14375078, essv14374592, essv14374614, essv14374897, essv14374760, essv14374831, essv14375153, essv14374977, essv14374899, essv14374952, essv14374713, essv14374490, essv14374689, essv14375220, essv14375269, essv14374802, essv14374820, essv14375159, essv14375161, essv14374534, essv14374537, essv14374709, essv14374869, essv14374504, essv14374491, essv14374943, essv14374911, essv14374733, essv14374972, essv14374816, essv14374494, essv14374860, essv14375299, essv14375031, essv14375140, essv14374682, essv14374672, essv14374516, essv14375288, essv14375268, essv14375039, essv14375254, essv14374838, essv14374598, essv14374502, essv14374982, essv14374528, essv14374493, essv14374892, essv14374573, essv14374787, essv14374702, essv14374512, essv14375035, essv14374666, essv14374531, essv14375282, essv14374862, essv14374959, essv14374913, essv14375213, essv14374635, essv14374793, essv14374574, essv14375297, essv14375249, essv14374553, essv14374857, essv14374658, essv14374949, essv14375038, essv14375219, essv14374915, essv14374769, essv14374566, essv14375127, essv14374527, essv14374551, essv14375275, essv14374783, essv14375136, essv14374639, essv14375088, essv14374646, essv14374722, essv14374768, essv14374522, essv14374890, essv14374875, essv14374505, essv14374771, essv14375018, essv14375151, essv14374900, essv14374919, essv14375106, essv14374660, essv14375184, essv14375261, essv14375148, essv14375006, essv14374753, essv14375206, essv14374758, essv14374818, essv14375278, essv14374712, essv14374737, essv14374697, essv14374556, essv14375015, essv14375173, essv14374855, essv14374671, essv14375124, essv14375026, essv14374803, essv14374792, essv14374807, essv14375154, essv14374989, essv14375257, essv14374565, essv14375274, essv14375236, essv14375133, essv14375218, essv14375132, essv14375051, essv14374815, essv14374767, essv14374883, essv14375243, essv14375169, essv14374676, essv14374667, essv14374878, essv14374606, essv14375170, essv14375244, essv14375017, essv14375270, essv14375019, essv14374830, essv14374694, essv14374670, essv14375146, essv14374748, essv14374817, essv14374861, essv14374718, essv14374578, essv14374763, essv14374907, essv14374960, essv14374747, essv14374939, essv14374641, essv14374922, essv14374884, essv14375066, essv14374659, essv14375248, essv14374808, essv14374889, essv14375157, essv14374985, essv14374535, essv14374979, essv14375086, essv14375273, essv14374996, essv14374751, essv14374521, essv14375227, essv14374647, essv14375045, essv14374583, essv14375070, essv14375052, essv14375024, essv14374983, essv14374782, essv14374801, essv14374613, essv14375306, essv14375101, essv14375119, essv14374593, essv14374633, essv14375049, essv14374668, essv14375239, essv14375040, essv14375079, essv14374955, essv14374624, essv14375183, essv14375210, essv14375029, essv14375315, essv14375060, essv14375021, essv14375082, essv14375046, essv14374706, essv14375314, essv14375134, essv14374963, essv14374497, essv14375156, essv14375121, essv14375207, essv14374691, essv14374950, essv14374715, essv14375063, essv14374618, essv14374964, essv14374675, essv14374845, essv14374572, essv14374506, essv14374794, essv14374886, essv14374631, essv14374856, essv14374630, essv14375125, essv14374600, essv14374797, essv14374517, essv14374603, essv14375076, essv14375034, essv14375259, essv14374841, essv14375135, essv14374784, essv14374729, essv14375303, essv14374789, essv14374541, essv14375073, essv14374686, essv14375266, essv14375167, essv14375283, essv14374776, essv14374934, essv14375011, essv14375166, essv14375215, essv14375089, essv14374965, essv14374489, essv14375141, essv14375129, essv14374550, essv14374891, essv14374791, essv14375139, essv14374594, essv14374923, essv14374912, essv14374866, essv14375165, essv14374757, essv14375272, essv14374538, essv14375010, essv14374498, essv14374902, essv14375007, essv14375186, essv14375214, essv14374887, essv14374743, essv14375294, essv14374812, essv14374678, essv14374568, essv14375075, essv14375118, essv14374951, essv14374483, essv14375258, essv14375145, essv14375048, essv14374736, essv14374735, essv14374832, essv14374580, essv14375245, essv14375037, essv14374532, essv14375023, essv14374837, essv14375205, essv14375027, essv14374657, essv14375174, essv14375084, essv14374924, essv14374871, essv14375316, essv14374693, essv14374588, essv14374790, essv14374610, essv14374821, essv14374910, essv14375116, essv14375074, essv14374756, essv14375062, essv14374984, essv14374507, essv14375160, essv14374591, essv14374882, essv14374688, essv14374492, essv14375313, essv14374852, essv14374669, essv14374962, essv14374508, essv14375012, essv14374773, essv14374741, essv14374716, essv14374822, essv14374944, essv14374643, essv14374755, essv14375304, essv14374956, essv14374487, essv14375112
SamplesNA20588, HG01986, NA20339, NA19028, HG01850, NA19664, NA12414, NA21099, HG03175, HG01602, NA11920, HG03241, HG02231, HG00257, HG03449, HG02836, HG02798, HG04076, NA12751, HG03941, HG03455, HG02017, HG02624, HG03295, HG03018, NA18530, HG02215, HG02888, HG02688, HG01461, NA21128, HG03372, HG03069, NA20359, HG02769, NA20806, NA20894, HG03837, HG00717, HG01873, HG03603, NA19171, HG01325, NA19379, HG00589, HG00122, NA19315, HG02069, NA20798, HG02140, NA20320, NA19678, HG02156, NA21130, HG04206, HG02840, NA20756, NA20795, HG02756, HG02521, NA18993, HG01492, NA18618, HG02645, NA11918, NA12762, HG01063, HG00355, HG04070, HG00537, NA20291, HG04033, HG03520, NA18868, HG02634, HG03045, NA19024, HG02642, HG02082, HG01284, HG02178, HG01771, NA19025, HG00326, NA20757, NA18867, NA20515, NA19789, HG02879, HG02479, NA20904, NA20892, HG00731, NA20800, HG01847, HG03132, HG01867, HG03685, HG01501, NA19070, HG01200, HG03511, HG02070, HG03088, HG02380, HG01684, HG01095, NA20760, HG01845, HG03159, HG01796, HG04177, HG01630, NA19064, HG03823, NA18907, HG01102, NA19084, HG02445, NA11893, HG00331, HG04173, HG03446, NA06989, HG03024, HG03451, HG02724, HG01334, NA19009, HG02256, HG00463, HG02332, NA18531, NA12778, HG02635, NA19395, HG01988, NA18593, HG02675, HG00376, HG01811, HG03934, HG01858, NA20799, HG00382, HG03848, HG02667, HG00336, NA18517, NA21144, NA18564, HG03875, HG03708, HG02546, HG02355, HG00580, HG02721, HG03458, HG03117, NA19331, HG03869, HG01620, NA18943, NA12763, NA18615, NA12347, HG03103, HG01861, NA19117, HG00614, HG02700, HG02128, HG02373, HG00478, NA18631, HG02401, HG02367, HG01912, NA19223, HG03849, HG02079, HG02116, HG02768, NA19102, HG04098, HG01631, HG01269, HG00112, HG02182, HG03470, HG03401, HG00274, NA19129, HG00628, HG02851, NA20827, HG02643, NA18612, NA19074, NA18577, HG03864, HG03271, HG02760, HG00593, HG03812, HG02614, HG00114, HG01746, HG01441, NA19648, NA19700, HG00592, HG01795, NA20853, HG03652, NA19794, HG03965, HG01348, HG01052, HG01537, HG02035, HG03057, HG03589, HG03015, HG02852, HG01374, NA20813, NA18603, HG04094, NA20321, HG02476, HG00699, HG04018, HG04164, NA20346, HG00150, NA20507, HG03577, HG03172, NA19098, NA12400, HG01924, NA19068, HG01341, NA12812, HG00251, HG02151, NA20861, HG02407, HG03499, NA20890, HG02087, HG02325, HG00173, HG03937, HG03765, NA19916, HG01459, HG00458, HG00330, HG02549, HG01843, HG00634, NA18942, HG01816, HG00610, HG02854, NA19197, HG02655, HG02374, HG03479, HG01848, NA20513, NA20541, NA19038, HG03793, NA12761, HG01134, NA18749, NA12282, HG03556, HG02315, HG00683, HG00106, HG02224, HG01813, NA19719, NA19075, HG03624, NA12889, NA19002, HG03744, HG00637, HG00338, NA20764, HG02882, HG01605, HG00419, NA18638, HG00675, HG00108, HG03169, NA19007, HG00543, HG02402, HG01136, HG00188, HG03120, HG02166, HG00560, NA19247, HG00629, HG03160, HG01360, HG00183, NA19082, NA20787, HG04225, NA20524, NA12342, HG02334, HG02582, NA19462, NA19347, HG03760, HG01344, NA19391, NA19327, HG02554, NA19982, HG02450, HG01810, HG02953, HG00500, NA19788, HG03756, HG02497, HG01852, HG02976, HG02555, HG03123, HG01392, HG01094, HG03563, HG01161, HG01414, NA19118, NA19000, HG00844, NA19655, HG03202, HG01197, HG03397, HG03078, HG01504, HG01182, NA19001, HG02283, HG03854, HG02081, HG01705, NA19756, HG00141, NA19160, NA18536, HG02586, HG03109, HG02408, HG03940, HG01990, NA18646, HG01700, HG01363, NA19401, HG02613, HG03028, HG02684, NA20801, NA18535, NA19834, NA19108, HG02759, HG02983, HG01800, HG01253, HG00136, HG02837, HG02314, HG03127, HG01205, NA18629, NA20504, NA19786, NA18591, NA21094, HG03557, HG03419, HG04003, HG03681, HG01801, NA19376, NA19078, HG00707, HG00672, HG00446, HG00409, HG02238, NA20582, NA19472, HG01028, HG03025, NA12749, HG02032, HG00288, NA19713, HG02396, HG01085, HG03258, HG02676, HG02410, NA18972, HG03538, HG01883, NA18984, HG01464, HG03611, HG00345, HG00759, HG02629, HG02343, HG01583, NA20509, NA20511, NA12383, HG02574, NA19701, NA12717, HG00304, HG02628, NA19703, HG02481, HG01462, HG00102, NA20766, NA12286, HG01610, NA19066, HG03052, HG02375, HG03111, NA20514, HG00766, NA20878, HG02122, HG02029, HG03300, HG00457, HG00315, NA20802, NA18639, HG01806, HG02804, NA12340, HG03126, HG01947, HG02384, HG00654, NA19443, HG01051, NA20356, HG03999, NA18510, NA12399, HG03478, HG01522, NA18627, HG03009, HG03133, NA18940, NA18519, HG02621, HG00272, HG02016, NA18597, HG02952, HG00599, NA18567, NA19062, HG04182, NA07347, NA19457, HG03224, NA20287, HG00185, HG02981, HG03887, NA20518, HG00148, NA11932, HG00113, NA12044, HG03691, NA18966, HG01525, HG00160, NA18990, HG02427, HG01844, HG01198, HG01133, NA20355, HG01121, NA20342, NA20127, HG02477, NA20318, NA20753, HG00743, HG02716, HG02047, HG02820, HG03363, HG03714, NA19006, HG02075, HG01669, HG00360, NA18933, HG01882, HG00368, HG01979, HG00132, HG00556, HG02887, HG01768, HG03575, HG02522, HG03081, HG02165, NA18534, HG01889, HG04235, HG00740, HG00324, HG00651, HG02577, HG00531, NA20581, HG03802, NA18912, HG01593, HG02881, NA19099, HG02979, NA18555, HG03046, HG01474, HG03672, HG00864, HG00240, HG01956, NA18541, HG01075, NA18974, HG03064, HG02660, NA19375, NA19003, HG01812, HG00258, NA20872, NA19390, HG04006, NA19149, NA19147, HG03437, NA19019, HG01678, HG00353, HG02220, HG04186, HG02790, NA12272, NA19090, HG02611, NA20527, NA20362, HG03259, HG02982, HG03469, HG02179, HG02941, NA19324, HG03870, NA20544, HG01137, HG02317, HG02019, NA18610, HG03779, HG00339, HG01086, NA18501, HG02095, HG03097, HG03066, HG01868, HG00342, NA19474, HG02107, HG03063, NA21093, NA19185, HG00310, HG01600, HG00280, NA19080, NA19711, HG03077, NA19900, NA20502, HG02763, NA18957, HG02855, NA19312, HG00171, NA12890, NA19463, NA20585, NA12154, NA18740, HG03303, HG01927, HG01786, NA20754, NA19346, HG00553, HG03166, HG00255, NA21091, NA19676, NA18997, HG00403, HG00881, HG02890, NA19141, HG02610, NA21097, HG01098, HG02250, HG03548, HG00361, HG02298, HG01773, HG00524, NA19332, NA21092, NA19020, HG04002, HG02870, HG03190, NA19393, NA19057, HG00566, HG03518, HG00179, HG01632, NA19314, HG00327, HG03074, HG03235, HG03082, HG04100, HG00127, NA19201, HG01953, HG03135, HG02810, NA19448, HG01488, HG00448, HG02130, HG00851, NA19138, HG01510, HG02111, HG03079, HG02505, NA19404, HG04214, HG03826, NA18970, HG01398, HG03189, HG03268, HG02512, HG02067, NA20819, HG02573, NA18977, NA19137, HG03195, HG01308, NA19385, HG03696, NA18986, NA20869, HG02571, HG03225, NA18864, HG03267, HG03058, NA20533, HG03114, HG02715, NA19200, HG03048, NA18648, HG01312, NA21106, NA18614, NA10847, NA20854, NA18544, HG02977, HG03908, NA19437, HG01841, HG01187, HG02233, HG01871, HG01595, HG00328, HG01104, NA12003, NA19152, HG01864, HG01271, HG03547, HG00701, HG01088, HG02322, NA18939, HG00320, HG01989, NA20126, HG02968, HG01808, NA18630, HG02537, HG02757, NA21116, HG03021, NA18566, HG01615, HG03085, HG00273, NA19114, HG03382, HG00956, HG03476, NA12249, HG02649, NA19113, HG02884, HG02086, NA19320, HG03745, HG02585, HG01890, HG02031, HG01286, NA19095, NA18546, NA20821, NA20773, NA18542, HG03790, HG02807, HG03240, HG01190, HG00285, NA19321, HG02799, HG02049, NA19473, HG01915, NA18941, HG01958, HG02651, NA19773, NA19380, NA20785, HG00308, NA19334, NA18992, HG03846, NA19085, HG01862, HG00269, NA19475, HG03084, HG03565, HG02974, HG03789, HG02230, HG01556, HG00421, HG03863, HG03049, HG00656, NA20334, HG02392, HG02113, HG03916, HG00186, HG03410, HG01872, NA19213, HG02186, HG01105, HG02052, NA20886, NA19661, HG03162, HG01378, NA18488, HG01082, HG03376, HG02465, NA20763, HG01672, HG02006, HG00180, HG00978, HG03196
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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