A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644787



Internal ID7031539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:54224126..54243061hg38UCSC Ensembl
chr19:54727998..54746910hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3818936
hg1918913
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv671e214
Supporting Variantsessv16091757, essv16091677, essv16091698, essv16092255, essv16091979, essv16091812, essv16091795, essv16091693, essv16091771, essv16092038, essv16091988, essv16091683, essv16091510, essv16091990, essv16091915, essv16092001, essv16091511, essv16092060, essv16091789, essv16092153, essv16092095, essv16091850, essv16091532, essv16091712, essv16091817, essv16091885, essv16091485, essv16091613, essv16091544, essv16092117, essv16091921, essv16091907, essv16091903, essv16092200, essv16091801, essv16092061, essv16091911, essv16091761, essv16091494, essv16091864, essv16091669, essv16091513, essv16091799, essv16092056, essv16092147, essv16091958, essv16091845, essv16091628, essv16092005, essv16092216, essv16091724, essv16091822, essv16092184, essv16091995, essv16092083, essv16091491, essv16091577, essv16091792, essv16091457, essv16091535, essv16092172, essv16092235, essv16091685, essv16091948, essv16091583, essv16091954, essv16091647, essv16092114, essv16091489, essv16091906, essv16091666, essv16092171, essv16092111, essv16091877, essv16092140, essv16091708, essv16091899, essv16092249, essv16091721, essv16091468, essv16091654, essv16091943, essv16091648, essv16091714, essv16092195, essv16092168, essv16092108, essv16091944, essv16092099, essv16091701, essv16091670, essv16092167, essv16091458, essv16091554, essv16091998, essv16091882, essv16092039, essv16091770, essv16091781, essv16091496, essv16092206, essv16092052, essv16091688, essv16091851, essv16092120, essv16091776, essv16091587, essv16092144, essv16091848, essv16091876, essv16091752, essv16092228, essv16092231, essv16091871, essv16091732, essv16092251, essv16091790, essv16092170, essv16091856, essv16091905, essv16092021, essv16091969, essv16091617, essv16091986, essv16091559, essv16091506, essv16091888, essv16092236, essv16092027, essv16091562, essv16091968, essv16091614, essv16091938, essv16091455, essv16091742, essv16091526, essv16092192, essv16091602, essv16091593, essv16092037, essv16091644, essv16092203, essv16092050, essv16091836, essv16091796, essv16092238, essv16091500, essv16091623, essv16092077, essv16091981, essv16091959, essv16092266, essv16092188, essv16092134, essv16091961, essv16091642, essv16091557, essv16091517, essv16091920, essv16091618, essv16091567, essv16091747, essv16091723, essv16091973, essv16091518, essv16092093, essv16091797, essv16091572, essv16092042, essv16092223, essv16092015, essv16091479, essv16091897, essv16091980, essv16091488, essv16091581, essv16092142, essv16092029, essv16091621, essv16091720, essv16091524, essv16091490, essv16092164, essv16091568, essv16091971, essv16091945, essv16092234, essv16092018, essv16091571, essv16092072, essv16092092, essv16091870, essv16091501, essv16092202, essv16091772, essv16091811, essv16092173, essv16091711, essv16091785, essv16091456, essv16092122, essv16091543, essv16091620, essv16092036, essv16091878, essv16091702, essv16091868, essv16091815, essv16091976, essv16091744, essv16091805, essv16092123, essv16091576, essv16091504, essv16091840, essv16091834, essv16092145, essv16091914, essv16091741, essv16091556, essv16091779, essv16091658, essv16091541, essv16092033, essv16091749, essv16092129, essv16092025, essv16091655, essv16091633, essv16091512, essv16092174, essv16091931, essv16091853, essv16091589, essv16091791, essv16091675, essv16091699, essv16091486, essv16091908, essv16091739, essv16091475, essv16092224, essv16092000, essv16091563, essv16092091, essv16092106, essv16091889, essv16091872, essv16091867, essv16091634, essv16091918, essv16092179, essv16091884, essv16091615, essv16091608, essv16092085, essv16091802, essv16092097, essv16091916, essv16091646, essv16091999, essv16091970, essv16092006, essv16092016, essv16091838, essv16092023, essv16091542, essv16092230, essv16091847, essv16092244, essv16091474, essv16091624, essv16091786, essv16092047, essv16091964, essv16091935, essv16091835, essv16091949, essv16091886, essv16091596, essv16091565, essv16091991, essv16091575, essv16092118, essv16092079, essv16091857, essv16091863, essv16091660, essv16092109, essv16091612, essv16091890, essv16092089, essv16091957, essv16091635, essv16092074, essv16092161, essv16092064, essv16091659, essv16092041, essv16091919, essv16091993, essv16092273, essv16092253, essv16092119, essv16091960, essv16091668, essv16092215, essv16091966, essv16091922, essv16091661, essv16091523, essv16092113, essv16091676, essv16091653, essv16091503, essv16092226, essv16092082, essv16091734, essv16091692, essv16091689, essv16091859, essv16091601, essv16091821, essv16091520, essv16091751, essv16092272, essv16092221, essv16091578, essv16092022, essv16091536, essv16091984, essv16092034, essv16091901, essv16091881, essv16091600, essv16092254, essv16091955, essv16092187, essv16091987, essv16091892, essv16091528, essv16092151, essv16091607, essv16092250, essv16091453, essv16091942, essv16091706, essv16091965, essv16091553, essv16092090, essv16092166, essv16091794, essv16091705, essv16092271, essv16091493, essv16091912, essv16091561, essv16092154, essv16091844, essv16091764, essv16091736, essv16091580, essv16092020, essv16091753, essv16091826, essv16092086, essv16091639, essv16092157, essv16091729, essv16092246, essv16091983, essv16091891, essv16092007, essv16092269, essv16091941, essv16091591, essv16091940, essv16092084, essv16091833, essv16091695, essv16091678, essv16091709, essv16091806, essv16091665, essv16091763, essv16091473, essv16092181, essv16092189, essv16091508, essv16092229, essv16091696, essv16091530, essv16092267, essv16091604, essv16091546, essv16091464, essv16092105, essv16092196, essv16091478, essv16091798, essv16091719, essv16091487, essv16091505, essv16092104, essv16091664, essv16091444, essv16092252, essv16092053, essv16091726, essv16091762, essv16091598, essv16091588, essv16091700, essv16091657, essv16091564, essv16091832, essv16092176, essv16091813, essv16091782, essv16092219, essv16092146, essv16092127, essv16092210, essv16092264, essv16092132, essv16091947, essv16092160, essv16091713, essv16091873, essv16091499, essv16091951, essv16091611, essv16091672, essv16091555, essv16091552, essv16092071, essv16091451, essv16092158, essv16092013, essv16091582, essv16092150, essv16092205, essv16091858, essv16092159, essv16091743, essv16091482, essv16091803, essv16091483, essv16092141, essv16092066, essv16092002, essv16092024, essv16091459, essv16091829, essv16091866, essv16091550, essv16092182, essv16091686, essv16091690, essv16092237, essv16092128, essv16091538, essv16091731, essv16091472, essv16091963, essv16091989, essv16092057, essv16092088, essv16091994, essv16091560, essv16091875, essv16091718, essv16092232, essv16091497, essv16092009, essv16091516, essv16092110, essv16091841, essv16092076, essv16091704, essv16091996, essv16091936, essv16092040, essv16091573, essv16092233, essv16091492, essv16091470, essv16091447, essv16092138, essv16091775, essv16092214, essv16091525, essv16092227, essv16091896, essv16091547, essv16091895, essv16092211, essv16091780, essv16091498, essv16091663, essv16092063, essv16091823, essv16092245, essv16092190, essv16091649, essv16091627, essv16092201, essv16091461, essv16092131, essv16091707, essv16091638, essv16091937, essv16091687, essv16091641, essv16091594, essv16092240, essv16092209, essv16092017, essv16092103, essv16091894, essv16092260, essv16092191, essv16091887, essv16092011, essv16091549, essv16092049, essv16091933, essv16091735, essv16092046, essv16092014, essv16091972, essv16091820, essv16091883, essv16091804, essv16092175, essv16091622, essv16092065, essv16091985, essv16092010, essv16092080, essv16092045, essv16091992, essv16092078, essv16091586, essv16092101, essv16092048, essv16091730, essv16091703, essv16091843, essv16091454, essv16092081, essv16091824, essv16092193, essv16092270, essv16091640, essv16091558, essv16091928, essv16091910, essv16092075, essv16092135, essv16092062, essv16091930, essv16091842, essv16091579, essv16092054, essv16092087, essv16091962, essv16092059, essv16091765, essv16091967, essv16091760, essv16092197, essv16091592, essv16092073, essv16091651, essv16092149, essv16092043, essv16091570, essv16091900, essv16092163, essv16091452, essv16091862, essv16091551, essv16092178, essv16092208, essv16091521, essv16091869, essv16091548, essv16091484, essv16091629, essv16092028, essv16091450, essv16091997, essv16091636, essv16091574, essv16091722, essv16091778, essv16091926, essv16092220, essv16092112, essv16092207, essv16091800, essv16091522, essv16092051, essv16091733, essv16091471, essv16091694, essv16091767, essv16091540, essv16092185, essv16091784, essv16091839, essv16091814, essv16091879, essv16092102, essv16091754, essv16092258, essv16091854, essv16091682, essv16092152, essv16091715, essv16091788, essv16091837, essv16091667, essv16091616, essv16092136, essv16091507, essv16092008, essv16092126, essv16091827, essv16091974, essv16092198, essv16091787, essv16092262, essv16091610, essv16091515, essv16092256, essv16091533, essv16091904, essv16092055, essv16091476, essv16092067, essv16091710, essv16091929, essv16091952, essv16091852, essv16092098, essv16091816, essv16092217, essv16092148, essv16091652, essv16092003, essv16091846, essv16091727, essv16091673, essv16091443, essv16091691, essv16091746, essv16092225, essv16092100, essv16092012, essv16091495, essv16091756, essv16092094, essv16091793, essv16091755, essv16091737, essv16091566, essv16091953, essv16091662, essv16092139, essv16091637, essv16091477, essv16091445, essv16092213, essv16091539, essv16091880, essv16091681, essv16092155, essv16091545, essv16091465, essv16091584, essv16091626, essv16091830, essv16092183, essv16092107, essv16092070, essv16092248, essv16091982, essv16092204, essv16091630, essv16092019, essv16091585, essv16091975, essv16091460, essv16091934, essv16091927, essv16092162, essv16092137, essv16091769, essv16091768, essv16091716, essv16091466, essv16092257, essv16091825, essv16091807, essv16091643, essv16091519, essv16091861, essv16091531, essv16091469, essv16091759, essv16091625, essv16092068, essv16092156, essv16091529, essv16091923, essv16092218, essv16092124, essv16091449, essv16092186, essv16091674, essv16091631, essv16091606, essv16091758, essv16091656, essv16092031, essv16092259, essv16092180, essv16092263, essv16091738, essv16091481, essv16091463, essv16091595, essv16091597, essv16091748, essv16091924, essv16092177, essv16091932, essv16091946, essv16091917, essv16092268, essv16092239, essv16091671, essv16091632, essv16091956, essv16091514, essv16091502, essv16092212, essv16091745, essv16092241, essv16092116, essv16091902, essv16092004, essv16091679, essv16091680, essv16091728, essv16091569, essv16091537, essv16091865, essv16091809, essv16091978, essv16092242, essv16092115, essv16091808, essv16091650, essv16091599, essv16091819, essv16092194, essv16091977, essv16091446, essv16091619, essv16091605, essv16092058, essv16091448, essv16091831, essv16092130, essv16091860, essv16091925, essv16091777, essv16091609, essv16092222, essv16091783, essv16091697, essv16091774, essv16092121, essv16092032, essv16091750, essv16091725, essv16091766, essv16091810, essv16091898, essv16092243, essv16092169, essv16091740, essv16092133, essv16091603, essv16091939, essv16092096, essv16091773, essv16091462, essv16091913, essv16092261, essv16092026, essv16091717, essv16091590, essv16092143, essv16091534, essv16091855, essv16091684, essv16092165, essv16092035, essv16091893, essv16092069, essv16091527, essv16092030, essv16092044, essv16091828, essv16091467, essv16092199, essv16092265, essv16092125, essv16091874, essv16092247, essv16091509, essv16091909, essv16091950, essv16091849, essv16091480, essv16091645, essv16091818
SamplesHG01608, HG01986, HG01985, HG01485, NA19028, HG00650, HG01402, NA20529, HG01918, HG01965, HG00608, NA18621, NA18947, HG01443, HG00384, HG01885, HG04060, HG01602, NA21100, NA12843, NA11920, NA11931, HG03717, HG02231, HG02419, NA18999, HG02836, HG04076, NA12751, HG03941, HG02691, HG03521, NA18504, HG03018, NA20864, HG03193, NA20863, HG02688, HG01461, HG02356, HG03372, HG01704, NA19920, NA20359, NA20806, NA20894, NA12813, HG03837, HG01350, HG00356, HG03385, NA19315, HG02069, NA20798, NA20320, HG01676, HG01167, NA21130, HG02840, HG01766, NA20756, NA20795, HG02756, HG01492, NA18916, NA07048, HG02645, NA18582, HG03234, NA12762, HG00311, NA20291, HG03917, HG04033, HG02562, HG03910, NA20812, NA18868, HG02634, HG03045, NA19024, HG02642, NA19172, HG03947, HG02178, HG04047, NA19239, HG01771, HG03073, HG00326, HG03585, NA18867, NA20515, NA19789, HG01164, HG00137, NA12777, NA20904, NA20535, NA12760, NA20800, HG03132, NA19070, HG01200, HG04039, HG03088, NA19175, NA12878, NA20521, HG01684, NA19184, HG02449, HG03928, HG01879, NA19043, HG02731, HG03711, HG03491, HG01498, NA20519, NA20832, HG03781, NA12234, HG01630, NA19064, HG03829, NA18879, HG01762, HG00331, NA21112, NA11840, HG03024, HG04063, HG02666, HG03006, HG02286, NA12778, HG02896, NA19625, HG01107, HG01257, HG00382, NA19652, NA19440, NA18533, HG02667, NA19256, NA21144, NA19712, NA19434, NA18564, HG03539, NA19454, HG03920, NA19331, NA12873, NA19010, NA18865, HG02232, NA21095, NA19428, HG00116, NA12763, HG01342, HG03973, HG03729, HG01785, NA20906, NA19328, HG02700, HG01765, HG01577, NA18631, HG03157, HG01912, HG00267, HG03351, HG02768, NA18873, HG01269, NA19770, NA20826, HG01914, NA20503, HG02947, NA19129, NA19011, NA20827, NA19065, HG01509, HG01776, NA19429, NA11832, HG03271, HG01507, NA18998, NA20874, HG01060, HG02339, HG00235, HG01441, HG00121, NA20853, HG03652, NA18924, HG01961, HG01537, HG01079, HG00100, HG01188, NA11933, HG02852, HG01374, NA20813, HG03558, HG02360, HG01305, NA20321, HG02476, NA19819, HG00452, HG03772, HG00341, HG03577, HG03172, NA19190, NA12400, HG02285, NA12341, HG01500, HG01250, HG01341, HG01503, HG03086, HG00251, HG00109, HG03796, NA20861, NA18489, NA19728, HG03499, HG02541, HG02325, NA19723, HG03937, HG02687, HG02620, HG00330, HG02549, HG01945, NA19131, HG00736, NA19649, HG02854, NA19197, HG03105, NA19023, HG01354, NA20540, NA19038, HG03793, NA12761, HG03868, HG00277, HG03460, HG02493, HG00120, HG02315, HG02490, HG02224, NA20896, NA20340, NA18560, HG04106, HG02885, HG01767, HG03624, NA19159, HG00182, NA19026, HG00637, HG00338, NA19209, NA18908, HG01605, NA18973, HG03369, HG00675, HG00108, HG03169, HG01603, HG01136, HG03780, HG00560, HG02570, NA19247, HG00629, HG01360, NA20787, HG04225, NA20524, HG02334, HG02697, HG02236, HG02090, NA19462, NA19347, NA12872, HG03760, HG01790, HG02511, NA19391, HG01938, HG01612, NA19982, HG02450, HG02307, NA20770, HG02976, HG02555, HG01777, HG01094, HG03563, HG01619, HG01414, NA19118, HG02817, HG03858, HG02494, HG01197, NA18499, HG03397, HG02008, HG01707, NA19031, HG01383, HG01241, HG04189, HG02283, NA18853, HG01705, HG01679, NA19225, NA06985, NA21142, NA20542, HG02399, HG01700, HG02255, HG01363, NA20801, NA11881, HG02759, HG03367, NA12775, NA19749, HG00742, HG04239, HG02983, HG00136, NA07051, HG02314, HG00631, HG01951, HG00607, NA18629, NA18591, NA21094, HG01991, NA21125, NA19143, HG01606, NA19248, NA19438, HG03646, HG03025, HG02646, HG00329, NA12749, HG02938, NA21101, HG04209, NA19726, HG01883, HG00252, HG03445, NA18984, HG03922, HG02861, HG00345, HG04161, HG02808, HG01191, NA20509, NA20511, HG02386, NA12383, HG02574, NA20761, HG02658, HG01173, HG03484, HG02628, NA12842, HG03121, HG03378, HG01462, HG01624, NA20508, HG03052, HG00242, NA21127, NA18861, NA12273, HG00358, HG03111, HG04158, NA20878, HG02122, HG02727, HG01066, HG00457, HG00315, NA20752, NA20802, HG03115, HG02012, NA20294, NA19355, HG03229, NA20332, HG01947, NA20517, NA19443, HG00261, HG00097, NA18510, NA12399, HG03478, HG01513, NA20814, HG03572, HG03133, HG03436, NA18940, NA18519, NA19319, HG04038, HG03168, NA18597, HG03943, HG01702, HG01351, HG02952, NA19307, HG03091, NA20774, HG00238, HG02301, NA07347, NA19457, HG02733, HG00334, NA20287, HG01372, HG00185, HG02603, NA19130, HG02981, HG02278, NA20539, NA19923, NA19041, NA12275, HG01069, HG02252, HG01080, NA20518, HG00148, NA12156, HG02736, NA11932, HG00232, NA19372, NA12044, NA18966, HG01525, HG00160, HG02545, HG02260, HG01133, NA20355, HG01121, HG02623, HG01275, NA20127, HG03394, HG02477, HG00253, HG00365, HG03784, NA19027, NA20753, HG01256, HG01124, HG02716, HG02820, HG03861, NA19091, HG01171, HG00380, HG03714, HG01670, HG00245, HG00360, HG03990, NA20885, NA18933, HG02678, HG00732, HG01882, HG00368, NA19455, HG01979, HG00132, NA20314, HG03457, HG01768, HG01142, HG00275, HG01345, HG01077, HG03081, HG02508, HG01675, HG01889, HG00239, HG00740, HG03967, NA11919, HG00250, NA21124, NA20581, HG03713, NA18912, HG02259, HG02881, HG00140, NA19752, NA19099, HG03969, HG02979, HG03914, HG03046, HG01474, HG00246, NA12546, HG03064, HG02660, NA19309, HG00383, HG00265, NA19149, NA19147, HG01980, HG01678, HG01131, HG00353, HG02220, HG04186, HG02790, NA12272, HG01272, NA20527, NA19835, HG03259, NA20792, HG03469, HG00237, NA20902, NA19324, HG01137, HG03727, NA19783, HG01489, HG00339, NA18501, HG02694, HG03112, NA21090, HG03977, HG03066, NA19468, NA19474, NA21093, NA20786, NA11843, NA19080, HG03872, NA19780, HG01468, NA19900, HG02774, HG00105, NA19030, HG02763, HG01431, HG02855, HG01111, NA19312, HG02020, HG01125, NA12006, NA19463, NA12154, NA18740, HG03955, HG03303, HG00553, HG00255, NA21091, HG01516, HG03741, HG03773, HG02890, HG03800, NA19222, NA11830, HG02610, HG01356, NA20543, HG02583, HG03548, HG00361, HG00351, HG03237, NA19332, HG02433, HG03738, HG02337, HG03607, HG01970, NA18917, HG04002, HG02891, HG00640, HG00318, NA19795, HG01465, HG01531, HG03190, HG03100, HG01971, NA18606, HG00177, HG03139, NA07357, HG01694, HG01140, HG03074, HG03082, NA19792, HG04100, NA19005, NA18944, HG01366, HG01070, HG02811, HG01682, HG03705, HG03135, HG02810, HG01779, NA20850, NA19448, HG02485, NA19119, NA19198, NA20905, NA12348, NA19771, HG00369, HG01668, NA18964, HG02922, HG02111, HG02489, NA19404, HG03826, HG01455, HG01398, NA19383, HG03968, HG03268, NA20819, HG01628, HG02461, HG01281, NA19385, NA19317, HG01673, HG03693, NA20869, HG00309, HG01259, HG04185, HG00159, HG03267, NA19456, NA21114, NA20533, HG03114, HG03270, HG03048, HG00739, HG03862, NA10847, HG02009, HG00313, HG00290, NA20854, NA18544, HG03844, HG02977, HG02265, NA19210, HG01187, NA18934, NA19152, HG03547, HG01162, HG01515, NA19913, HG02108, HG01088, HG02322, HG00320, HG01989, NA20506, HG04019, HG01119, NA20126, NA19658, HG02102, NA20767, HG02537, HG02757, HG01049, HG03021, HG01092, NA19114, NA19449, HG03476, NA21141, NA20538, NA19740, HG03745, NA19257, HG00276, HG01890, HG03755, HG03354, NA19095, HG01530, NA20765, NA19035, NA18546, HG02813, NA20821, NA21113, NA20522, HG03833, HG01190, NA19321, HG02223, NA19735, HG00366, HG02696, HG01894, NA19435, NA20804, HG02923, NA19144, HG01977, HG01494, HG02839, HG01933, NA07037, NA19475, HG01395, HG02974, HG03896, HG02970, HG02230, HG01556, NA20334, HG02053, HG03022, HG02239, HG03410, HG02679, HG00234, HG00131, HG01781, NA19213, NA20528, HG01105, HG02052, HG01251, NA19661, HG03162, HG02028, HG03882, HG01378, NA18488, HG01082, NA19758, HG02465, NA20763, NA18511, NA07000, NA18522, HG01112, HG03698, HG03129, HG02006, HG00180, HG01923, HG01578, HG01695, NA12776
Known GenesLILRA6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644787
Frequency
Sample Size2504
Observed Gain831
Observed Loss0
Observed Complex0
Frequencyn/a


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