A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589558



Internal ID6629847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:248592354..248595177hg38UCSC Ensembl
Innerchr1:248592357..248595174hg38UCSC Ensembl
Outerchr1:248592351..248595180hg38UCSC Ensembl
chr1:248755655..248758478hg19UCSC Ensembl
Innerchr1:248755658..248758475hg19UCSC Ensembl
Outerchr1:248755652..248758481hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg382824
hg192824
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10377725, essv10377810, essv10377711, essv10377632, essv10377764, essv10377712, essv10377654, essv10378245, essv10377635, essv10377835, essv10378101, essv10377927, essv10377910, essv10377806, essv10377602, essv10377664, essv10378119, essv10377759, essv10377731, essv10378147, essv10378014, essv10377686, essv10377733, essv10378132, essv10378167, essv10377874, essv10378163, essv10378237, essv10378087, essv10378024, essv10377802, essv10378239, essv10377984, essv10378113, essv10378051, essv10378069, essv10377549, essv10377890, essv10377685, essv10377730, essv10377823, essv10378173, essv10377771, essv10377655, essv10377700, essv10378209, essv10378154, essv10377821, essv10377877, essv10377604, essv10377582, essv10378175, essv10377619, essv10377694, essv10377872, essv10377779, essv10377610, essv10377770, essv10378296, essv10377645, essv10377958, essv10377860, essv10378102, essv10378269, essv10378243, essv10378200, essv10377814, essv10377783, essv10377721, essv10378286, essv10378142, essv10377819, essv10377748, essv10377564, essv10377935, essv10377750, essv10377964, essv10377941, essv10378065, essv10377615, essv10378150, essv10378194, essv10377723, essv10378079, essv10378170, essv10378094, essv10378073, essv10378078, essv10377997, essv10377901, essv10377884, essv10378234, essv10377940, essv10378226, essv10378238, essv10377954, essv10377589, essv10377579, essv10378218, essv10378182, essv10378020, essv10377875, essv10378285, essv10377746, essv10378266, essv10377603, essv10377951, essv10378081, essv10377781, essv10378192, essv10377903, essv10377865, essv10377844, essv10377774, essv10378259, essv10377923, essv10378255, essv10377908, essv10378169, essv10377857, essv10378199, essv10378185, essv10378131, essv10378001, essv10378043, essv10377776, essv10377559, essv10378223, essv10377693, essv10377873, essv10377766, essv10378249, essv10377638, essv10377894, essv10377754, essv10377883, essv10377965, essv10377681, essv10377945, essv10377953, essv10377652, essv10377728, essv10377612, essv10377918, essv10377866, essv10377761, essv10378197, essv10378191, essv10377623, essv10378293, essv10377878, essv10377851, essv10377661, essv10377587, essv10378253, essv10378046, essv10378235, essv10377948, essv10377714, essv10378216, essv10378164, essv10378062, essv10378265, essv10378032, essv10377634, essv10377870, essv10377662, essv10377933, essv10377828, essv10378074, essv10377792, essv10378159, essv10378038, essv10378280, essv10378028, essv10377772, essv10378083, essv10377757, essv10377804, essv10378151, essv10377988, essv10378012, essv10377597, essv10378075, essv10377950, essv10378292, essv10377822, essv10377713, essv10377627, essv10377640, essv10377794, essv10378082, essv10377697, essv10378118, essv10378112, essv10378093, essv10377967, essv10377891, essv10377998, essv10378256, essv10377811, essv10377687, essv10377826, essv10378228, essv10377966, essv10377707, essv10378108, essv10378214, essv10377938, essv10377689, essv10378114, essv10378272, essv10377922, essv10378109, essv10378284, essv10377591, essv10378030, essv10378004, essv10378261, essv10377896, essv10377799, essv10377999, essv10377952, essv10377801, essv10377684, essv10377717, essv10377995, essv10377845, essv10377621, essv10377729, essv10377718, essv10377705, essv10377780, essv10377983, essv10377797, essv10378241, essv10377888, essv10377850, essv10377630, essv10378273, essv10378251, essv10378125, essv10377715, essv10377590, essv10377920, essv10378058, essv10377981, essv10378099, essv10378222, essv10377834, essv10377985, essv10378006, essv10377673, essv10378187, essv10377574, essv10378068, essv10377924, essv10377793, essv10377751, essv10377795, essv10378047, essv10377565, essv10377680, essv10378137, essv10377869, essv10378023, essv10378180, essv10377732, essv10377617, essv10377743, essv10377616, essv10378080, essv10377762, essv10377710, essv10378188, essv10378127, essv10378196, essv10378031, essv10377881, essv10377817, essv10378057, essv10378224, essv10377744, essv10378263, essv10377696, essv10377820, essv10377677, essv10378240, essv10378236, essv10378270, essv10378121, essv10378186, essv10377575, essv10378092, essv10377639, essv10377914, essv10377803, essv10378162, essv10377830, essv10378097, essv10377867, essv10378037, essv10377666, essv10377847, essv10377864, essv10378141, essv10378096, essv10377932, essv10377641, essv10377601, essv10377961, essv10377737, essv10377973, essv10378155, essv10378294, essv10378213, essv10377647, essv10377755, essv10377982, essv10377669, essv10377785, essv10377993, essv10377833, essv10378044, essv10378048, essv10377832, essv10377955, essv10377947, essv10378166, essv10377788, essv10378122, essv10378060, essv10378274, essv10378129, essv10377629, essv10378232, essv10378254, essv10377949, essv10377692, essv10377551, essv10378211, essv10377855, essv10377708, essv10378262, essv10377882, essv10377815, essv10378227, essv10377978, essv10377553, essv10377695, essv10377550, essv10377648, essv10378179, essv10377843, essv10377637, essv10378007, essv10378013, essv10377919, essv10378035, essv10378005, essv10377917, essv10378174, essv10378283, essv10377719, essv10377898, essv10378009, essv10377928, essv10377925, essv10377560, essv10377778, essv10378198, essv10378033, essv10378144, essv10377568, essv10377646, essv10378271, essv10377626, essv10378300, essv10377691, essv10377614, essv10378178, essv10378040, essv10377585, essv10378027, essv10377688, essv10377782, essv10378077, essv10378195, essv10377636, essv10378067, essv10377934, essv10377879, essv10378061, essv10377756, essv10378177, essv10378053, essv10377859, essv10377598, essv10378250, essv10378230, essv10377722, essv10377742, essv10378242, essv10377643, essv10378221, essv10377962, essv10377805, essv10378295, essv10377992, essv10377649, essv10377644, essv10377747, essv10377739, essv10378120, essv10377921, essv10377650, essv10378130, essv10378072, essv10377885, essv10377887, essv10378267, essv10378146, essv10377651, essv10377580, essv10377812, essv10377969, essv10377716, essv10378278, essv10377768, essv10377767, essv10378105, essv10377670, essv10377618, essv10378139, essv10377736, essv10378017, essv10378016, essv10377911, essv10377724, essv10378229, essv10377909, essv10377679, essv10377569, essv10377557, essv10378054, essv10377709, essv10378289, essv10378064, essv10378181, essv10378161, essv10377595, essv10377960, essv10377791, essv10378143, essv10377892, essv10377852, essv10377787, essv10378034, essv10377858, essv10377977, essv10377899, essv10377671, essv10377825, essv10377660, essv10377915, essv10378002, essv10377704, essv10377703, essv10377563, essv10377656, essv10377576, essv10377987, essv10377906, essv10377653, essv10378025, essv10378010, essv10377607, essv10377567, essv10378193, essv10378021, essv10378247, essv10378153, essv10378063, essv10377740, essv10377991, essv10377861, essv10377631, essv10378136, essv10378268, essv10377789, essv10378066, essv10378189, essv10377561, essv10377848, essv10378275, essv10377863, essv10377749, essv10377738, essv10378029, essv10378217, essv10378134, essv10377876, essv10377895, essv10378225, essv10378041, essv10378116, essv10378176, essv10377786, essv10378085, essv10378220, essv10378039, essv10378055, essv10378207, essv10378123, essv10377698, essv10377663, essv10377570, essv10378282, essv10377813, essv10377659, essv10377554, essv10377594, essv10378049, essv10377868, essv10377592, essv10378100, essv10377665, essv10377800, essv10377735, essv10378140, essv10378158, essv10377672, essv10377699, essv10378215, essv10377808, essv10378106, essv10378287, essv10377980, essv10378210, essv10378088, essv10378184, essv10377577, essv10378203, essv10377944, essv10378117, essv10377824, essv10377674, essv10377667, essv10378260, essv10378258, essv10377854, essv10378171, essv10377989, essv10377809, essv10378084, essv10377836, essv10377773, essv10377702, essv10377668, essv10377900, essv10377658, essv10378086, essv10377913, essv10377994, essv10378133, essv10377942, essv10377777, essv10378050, essv10378036, essv10377902, essv10377758, essv10378110, essv10377907, essv10377741, essv10378212, essv10377753, essv10378019, essv10378059, essv10377829, essv10378045, essv10378246, essv10377573, essv10378281, essv10377818, essv10377946, essv10378145, essv10377599, essv10378149, essv10377842, essv10378135, essv10377572, essv10378168, essv10378026, essv10377916, essv10378124, essv10377837, essv10377676, essv10377562, essv10377970, essv10378003, essv10377831, essv10377583, essv10378257, essv10377959, essv10378264, essv10378248, essv10378205, essv10377968, essv10378288, essv10377849, essv10377690, essv10377846, essv10377763, essv10377752, essv10377588, essv10377905, essv10377862, essv10377839, essv10378252, essv10377880, essv10377765, essv10377611, essv10378290, essv10377682, essv10378183, essv10378071, essv10377798, essv10378298, essv10378204, essv10377558, essv10377976, essv10378018, essv10377807, essv10377642, essv10378219, essv10378011, essv10377556, essv10378128, essv10377609, essv10377596, essv10378299, essv10377581, essv10377613, essv10378042, essv10378233, essv10377678, essv10378022, essv10377769, essv10377624, essv10377578, essv10377912, essv10377633, essv10377593, essv10378297, essv10377963, essv10377936, essv10377893, essv10378107, essv10378098, essv10377622, essv10377926, essv10377628, essv10377675, essv10377657, essv10377606, essv10378156, essv10378152, essv10377734, essv10378090, essv10377796, essv10377548, essv10378157, essv10377897, essv10377939, essv10378206, essv10377584, essv10378190, essv10377929, essv10378052, essv10378015, essv10377871, essv10377625, essv10378208, essv10377975, essv10377586, essv10378277, essv10378276, essv10377790, essv10378165, essv10377996, essv10377930, essv10377841, essv10377827, essv10378076, essv10378070, essv10377856, essv10377555, essv10377937, essv10378091, essv10378089, essv10377990, essv10377727, essv10377605, essv10378008, essv10378095, essv10377943, essv10377706, essv10378111, essv10378244, essv10377957, essv10378231, essv10378000, essv10377600, essv10378056, essv10377816, essv10378291, essv10377889, essv10378104, essv10377840, essv10377974, essv10377760, essv10377904, essv10377726, essv10377566, essv10378202, essv10377886, essv10377720, essv10377745, essv10377701, essv10378279, essv10378103, essv10377979, essv10377956, essv10377571, essv10377931, essv10377986, essv10378138, essv10377552, essv10377608, essv10378172, essv10377971, essv10378201, essv10378126, essv10378115, essv10378148, essv10377838, essv10377784, essv10377775, essv10378160, essv10377853, essv10377972, essv10377683, essv10377620
SamplesHG01986, HG01985, NA20339, HG03593, HG02496, HG03228, NA19664, HG01031, HG04222, HG03175, HG03517, HG03247, NA21100, HG03717, HG03241, HG02419, HG02836, HG02798, HG02691, HG03521, NA18878, HG02050, NA18504, HG03295, NA20864, 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, NA19384, NA20291, NA19720, 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, HG00126, NA19625, HG02675, HG00376, HG03934, HG00611, HG00382, NA19652, NA19440, HG04216, HG02667, HG00336, NA18517, NA19712, NA19434, HG03875, HG03539, HG03708, NA19454, HG02355, HG02721, NA20870, HG03458, HG03117, NA19331, HG02391, HG01866, HG03869, HG02464, HG01798, NA20281, HG02137, HG00662, HG03103, NA20888, HG01861, HG01785, NA19328, HG02700, HG02128, HG01765, HG02367, HG01935, HG01912, NA19223, NA19351, HG00267, HG02768, NA19102, NA18873, NA18876, HG04171, HG03470, HG01794, HG00274, HG02947, NA19129, HG02851, NA20827, HG02643, NA19429, HG03271, HG02760, HG01507, HG00593, HG00626, HG02614, HG03559, NA19648, NA19700, NA18924, NA19466, NA11995, HG03960, HG01079, HG02648, NA18561, NA19704, NA18507, HG03057, HG01188, NA19734, HG02852, HG01374, NA20813, NA18877, NA12045, HG03558, HG04094, HG01305, HG02476, NA19819, HG02058, HG00452, 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, 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, HG01880, NA18976, HG02497, HG02789, HG02555, HG03563, HG01161, NA19000, HG00844, HG02817, NA20859, NA18499, HG03397, HG03078, HG02604, HG02048, NA19031, HG04189, HG02283, HG03854, HG03391, NA06985, HG01403, NA19756, NA19160, NA18536, HG03991, HG02586, HG01990, HG00128, HG03567, NA20296, HG02255, NA19308, NA18978, HG04134, NA11881, HG03461, NA18559, HG03367, NA12775, HG02501, HG00565, NA18950, HG02314, HG01623, HG03433, HG03127, HG00607, HG01260, NA18591, HG03419, HG02814, HG04003, HG03432, HG01606, HG03039, NA19248, HG03442, NA20868, NA19438, HG03646, NA19472, HG03025, HG02032, HG02938, HG01085, HG00174, NA21101, NA12830, HG03258, HG02676, NA19726, HG03538, HG01883, HG00372, HG00252, HG03445, HG02861, NA18505, HG03611, HG00759, HG01886, HG02808, HG02629, HG02343, HG00437, HG01976, NA19394, 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, HG00599, NA20774, NA18923, HG00238, HG02860, HG02085, NA19062, HG04182, HG03578, NA19457, HG02054, NA20287, HG01372, NA19904, HG02816, NA19130, 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, NA18534, 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, HG02274, HG03304, HG02317, HG01489, HG02694, HG03112, HG02095, HG04140, HG03097, HG04014, HG02107, HG03060, NA21133, HG01600, HG00280, NA19116, HG01468, HG00728, NA18983, HG02774, NA19030, HG02763, HG02855, NA11892, NA19312, HG02778, HG02805, HG04153, HG03303, HG03439, NA19214, NA19676, NA21110, HG02890, NA19141, HG03366, NA19222, HG02610, HG00231, NA11829, HG03548, HG00351, NA19914, HG00187, NA20274, HG02337, HG02318, HG01280, NA21092, NA18917, HG02891, NA19795, HG00566, HG03895, HG00179, HG03792, HG03944, HG03836, HG02895, NA07357, HG03199, NA18967, HG00622, NA19374, NA19201, HG02811, HG03135, NA20850, HG03490, HG01488, NA20586, NA19119, NA20317, HG03370, HG03885, NA19138, HG00369, HG01982, HG02922, HG02111, HG01242, HG03079, HG02489, NA18611, HG02281, NA19404, HG03189, HG02512, HG02067, NA06984, HG02573, HG03595, NA19917, NA19137, HG02461, HG01281, NA19731, HG03195, HG02571, HG00159, HG03058, HG02180, NA19445, NA19200, HG03270, HG03048, NA18648, HG01183, HG01139, NA20854, HG03844, HG02977, HG03054, HG01248, 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, 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, HG01933, NA19467, NA19741, NA20797, NA19085, HG03108, HG00269, HG04141, NA20357, HG03565, 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, HG03886
Known GenesOR2T10
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589558
Frequency
Sample Size2504
Observed Gain0
Observed Loss753
Observed Complex0
Frequencyn/a


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