A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3612674



Internal ID6652887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:28534676..28535529hg38UCSC Ensembl
Innerchr7:28534676..28535529hg38UCSC Ensembl
Outerchr7:28534676..28535529hg38UCSC Ensembl
chr7:28574294..28575147hg19UCSC Ensembl
Innerchr7:28574294..28575147hg19UCSC Ensembl
Outerchr7:28574294..28575147hg19UCSC Ensembl
Cytoband7p15.1
Allele length
AssemblyAllele length
hg38854
hg19854
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12715142, essv12715277, essv12715136, essv12715471, essv12714925, essv12715292, essv12715465, essv12714950, essv12715408, essv12715217, essv12715505, essv12715324, essv12715419, essv12715485, essv12715148, essv12715496, essv12715488, essv12715122, essv12715390, essv12715202, essv12714904, essv12715375, essv12714982, essv12715140, essv12714940, essv12715593, essv12715369, essv12715421, essv12714975, essv12715413, essv12715272, essv12715518, essv12714960, essv12714885, essv12715011, essv12715020, essv12715480, essv12715098, essv12714890, essv12715447, essv12714997, essv12715381, essv12715026, essv12715423, essv12715469, essv12715479, essv12715546, essv12714898, essv12715168, essv12715177, essv12715024, essv12715220, essv12714990, essv12714899, essv12715539, essv12715065, essv12714887, essv12715535, essv12714951, essv12715119, essv12715380, essv12715281, essv12715427, essv12715438, essv12715108, essv12715264, essv12715370, essv12715049, essv12715240, essv12715076, essv12714908, essv12715118, essv12715360, essv12715310, essv12714961, essv12715355, essv12715359, essv12715586, essv12715383, essv12715388, essv12715511, essv12715298, essv12715473, essv12715486, essv12715333, essv12715499, essv12714939, essv12715018, essv12715446, essv12715126, essv12715135, essv12714992, essv12714901, essv12715399, essv12714879, essv12715265, essv12715032, essv12715393, essv12715304, essv12715133, essv12715070, essv12715103, essv12714972, essv12715418, essv12715127, essv12715492, essv12714987, essv12715386, essv12715139, essv12714889, essv12715389, essv12715433, essv12715017, essv12715376, essv12715409, essv12715542, essv12715432, essv12714978, essv12715212, essv12715123, essv12715130, essv12715313, essv12715508, essv12715052, essv12715401, essv12715490, essv12715080, essv12715048, essv12715154, essv12715084, essv12715137, essv12715242, essv12715072, essv12715131, essv12715179, essv12715562, essv12714959, essv12714976, essv12715543, essv12715090, essv12715591, essv12714902, essv12714984, essv12714914, essv12715069, essv12715528, essv12715287, essv12715504, essv12715414, essv12715335, essv12715006, essv12715233, essv12715183, essv12715363, essv12715237, essv12715362, essv12714983, essv12715328, essv12715176, essv12715158, essv12715325, essv12715400, essv12715445, essv12714924, essv12715193, essv12715201, essv12715374, essv12715382, essv12715466, essv12715576, essv12715102, essv12715156, essv12715013, essv12715229, essv12715489, essv12715057, essv12715275, essv12715530, essv12715565, essv12714931, essv12715462, essv12714894, essv12714954, essv12715238, essv12714906, essv12715231, essv12715311, essv12715340, essv12715455, essv12714998, essv12715166, essv12715290, essv12715312, essv12715053, essv12715442, essv12715574, essv12715271, essv12715015, essv12715209, essv12714926, essv12715068, essv12715531, essv12715582, essv12715309, essv12715255, essv12715472, essv12715329, essv12714945, essv12715336, essv12715507, essv12715115, essv12715279, essv12715579, essv12715004, essv12715354, essv12715487, essv12715025, essv12715149, essv12715266, essv12715398, essv12715563, essv12715348, essv12714930, essv12715111, essv12715153, essv12715194, essv12715185, essv12715544, essv12715114, essv12715293, essv12714988, essv12715274, essv12714936, essv12715357, essv12715341, essv12714967, essv12714981, essv12715573, essv12714896, essv12714986, essv12715055, essv12715085, essv12715199, essv12715088, essv12715278, essv12715589, essv12715230, essv12714921, essv12714912, essv12715198, essv12715074, essv12715262, essv12715429, essv12715099, essv12715172, essv12715570, essv12715254, essv12715475, essv12715553, essv12714920, essv12715228, essv12715555, essv12714888, essv12715434, essv12715146, essv12715045, essv12715050, essv12715441, essv12715173, essv12715226, essv12715509, essv12715303, essv12714952, essv12715009, essv12715214, essv12715366, essv12715467, essv12715459, essv12715561, essv12715071, essv12715116, essv12715144, essv12715181, essv12715345, essv12715533, essv12715270, essv12715285, essv12715559, essv12715186, essv12715227, essv12715280, essv12715184, essv12715314, essv12715520, essv12714884, essv12714919, essv12715385, essv12715552, essv12715082, essv12715440, essv12715402, essv12715117, essv12715007, essv12715213, essv12714933, essv12715241, essv12715436, essv12715081, essv12715206, essv12715301, essv12715347, essv12715092, essv12715437, essv12714962, essv12714974, essv12715412, essv12715450, essv12714970, essv12714985, essv12715215, essv12715470, essv12714937, essv12715494, essv12714955, essv12715196, essv12715008, essv12715063, essv12715073, essv12715519, essv12714977, essv12714989, essv12715268, essv12715289, essv12715379, essv12715580, essv12715283, essv12715431, essv12714897, essv12715003, essv12715468, essv12715112, essv12715405, essv12714905, essv12715022, essv12715537, essv12715170, essv12715547, essv12715344, essv12715512, essv12715257, essv12715244, essv12715394, essv12715571, essv12715534, essv12715005, essv12715384, essv12715319, essv12715564, essv12715372, essv12715338, essv12714953, essv12715527, essv12715019, essv12715195, essv12715190, essv12715059, essv12715083, essv12715095, essv12715577, essv12714883, essv12714916, essv12715041, essv12715428, essv12715234, essv12715556, essv12715316, essv12715368, essv12714993, essv12714915, essv12715180, essv12715569, essv12715104, essv12715030, essv12715373, essv12715330, essv12714973, essv12715416, essv12715248, essv12715061, essv12715096, essv12715403, essv12715182, essv12715246, essv12715588, essv12714969, essv12715208, essv12715124, essv12715191, essv12715159, essv12715567, essv12715223, essv12715444, essv12715566, essv12715160, essv12715371, essv12715367, essv12715247, essv12715464, essv12715503, essv12715062, essv12715151, essv12715396, essv12715548, essv12714934, essv12715224, essv12715526, essv12714913, essv12714957, essv12715239, essv12715307, essv12715356, essv12715517, essv12715157, essv12715536, essv12715106, essv12715211, essv12715558, essv12715251, essv12714946, essv12715034, essv12714938, essv12714947, essv12715120, essv12715101, essv12715189, essv12715260, essv12715210, essv12715317, essv12715352, essv12714891, essv12715522, essv12715089, essv12715581, essv12715478, essv12715249, essv12715110, essv12715353, essv12715288, essv12715077, essv12715523, essv12714927, essv12715132, essv12715155, essv12714944, essv12715587, essv12715197, essv12715236, essv12714892, essv12714900, essv12714893, essv12715269, essv12715204, essv12714903, essv12715086, essv12715225, essv12715000, essv12715273, essv12714956, essv12715452, essv12715500, essv12715075, essv12715152, essv12715358, essv12714932, essv12715094, essv12715109, essv12715164, essv12715387, essv12715448, essv12715590, essv12714958, essv12715300, essv12714949, essv12715343, essv12715545, essv12715001, essv12715100, essv12715161, essv12715010, essv12715145, essv12715525, essv12714910, essv12715033, essv12715514, essv12715584, essv12714965, essv12715121, essv12715425, essv12714941, essv12715439, essv12715474, essv12715091, essv12715243, essv12715305, essv12715232, essv12715430, essv12715516, essv12715320, essv12715407, essv12715134, essv12714963, essv12715162, essv12715477, essv12715321, essv12715575, essv12715302, essv12715549, essv12715592, essv12715002, essv12715138, essv12715256, essv12715484, essv12715296, essv12714917, essv12715426, essv12714923, essv12715105, essv12715406, essv12715435, essv12715420, essv12715282, essv12714928, essv12715066, essv12715253, essv12714929, essv12714968, essv12715143, essv12715219, essv12714971, essv12715028, essv12715568, essv12715315, essv12715323, essv12715284, essv12715332, essv12715578, essv12715299, essv12715128, essv12715540, essv12715014, essv12715331, essv12715551, essv12714918, essv12715322, essv12715267, essv12715051, essv12715029, essv12715023, essv12714911, essv12715349, essv12715495, essv12715044, essv12715318, essv12715188, essv12714991, essv12715054, essv12714882, essv12715218, essv12714966, essv12715308, essv12714964, essv12715037, essv12715107, essv12714994, essv12715187, essv12714922, essv12715456, essv12715021, essv12715207, essv12714907, essv12715235, essv12715163, essv12715203, essv12714999, essv12715216, essv12715395, essv12715493, essv12715521, essv12715346, essv12715506, essv12715457, essv12715027, essv12715585, essv12715039, essv12715501, essv12715449, essv12715036, essv12715097, essv12714877, essv12715532, essv12715221, essv12715286, essv12715424, essv12715515, essv12715060, essv12715361, essv12715056, essv12715064, essv12715113, essv12715538, essv12714909, essv12715258, essv12714880, essv12714881, essv12715451, essv12715200, essv12715150, essv12715125, essv12714980, essv12715035, essv12715141, essv12715294, essv12715365, essv12715245, essv12715541, essv12715058, essv12715417, essv12715171, essv12714886, essv12715443, essv12715093, essv12715327, essv12715047, essv12715147, essv12715378, essv12715326, essv12715334, essv12715016, essv12715306, essv12715422, essv12714943, essv12715178, essv12715550, essv12714979, essv12715291, essv12715458, essv12715043, essv12714996, essv12714995, essv12715263, essv12715165, essv12715067, essv12715392, essv12715411, essv12715560, essv12715397, essv12715337, essv12715502, essv12715510, essv12714942, essv12715259, essv12715513, essv12715078, essv12715554, essv12715250, essv12715040, essv12715497, essv12715174, essv12715339, essv12715498, essv12715491, essv12715261, essv12715415, essv12715192, essv12715583, essv12715295, essv12715529, essv12715167, essv12715169, essv12715175, essv12715572, essv12715046, essv12715351, essv12715079, essv12715391, essv12715276, essv12715454, essv12715205, essv12714895, essv12715377, essv12715476, essv12715410, essv12715012, essv12714935, essv12715364, essv12715031, essv12715297, essv12715557, essv12715087, essv12715222, essv12715482, essv12715129, essv12715038, essv12715524, essv12715350, essv12715453, essv12715404, essv12715461, essv12715483, essv12714878, essv12714948, essv12715342, essv12715463, essv12715481, essv12715460, essv12715042, essv12715252
SamplesHG00613, HG01441, HG00380, NA19312, NA12154, HG01770, HG01440, NA20351, HG02675, NA19026, HG02649, HG03351, HG01896, HG02298, HG00551, NA20752, HG01882, HG00112, NA18757, HG00464, NA20544, NA20796, HG01105, HG02334, HG02896, NA19223, HG00463, HG03896, HG04056, HG01365, NA19923, HG04060, NA20800, HG01082, HG03469, HG03829, NA18947, HG03311, HG03653, NA20362, HG01200, HG03920, HG00139, HG00739, HG02375, HG03432, NA21135, HG01167, NA20805, HG00111, HG00334, HG00187, NA19320, NA20763, HG00335, NA20845, HG03696, NA19701, HG03916, NA19472, NA20853, HG04106, HG04209, NA19037, HG00290, HG00554, HG01468, HG02585, HG02420, HG03088, HG00158, HG01148, NA11919, HG03193, HG01375, HG03054, NA12004, HG03882, HG03953, HG00259, HG02233, NA18623, NA19471, HG01048, NA20530, HG01088, HG03559, HG04198, NA18636, NA12761, NA11843, NA11831, NA20520, HG02521, HG04222, HG04063, HG00243, HG00284, NA12234, NA12144, HG01986, HG00097, HG00844, HG02236, NA19360, HG00267, HG00233, HG04025, HG03040, HG03792, HG04161, HG02541, NA12778, NA12348, NA19102, HG00365, HG02922, HG03547, HG01773, NA11892, NA19001, HG01260, HG00534, HG00525, HG04093, HG01341, HG03228, HG01077, HG03132, HG04235, HG00109, HG01137, NA19376, HG02645, HG01345, HG01695, HG02070, HG03045, NA12812, HG03771, HG01256, HG02230, NA19116, NA18631, NA19431, NA21087, HG01893, HG02035, HG02628, NA20287, HG01390, HG03105, HG03999, NA12878, NA18879, NA19475, HG02252, NA20317, NA11830, HG00123, HG01275, HG01366, HG02256, NA20359, HG03077, HG03718, NA19752, NA20758, HG02682, HG00623, HG01119, NA11932, HG00566, NA11829, HG02642, HG00119, HG01498, NA20904, HG00275, HG01842, NA12874, HG00183, NA19350, HG02555, HG02813, HG03885, NA20806, HG01377, NA19185, HG02505, NA19454, HG00376, NA19087, HG00271, NA19779, HG00107, HG01474, HG01686, HG02839, HG03689, HG02715, HG02580, NA20281, HG01372, HG02890, NA12827, NA19913, HG01515, HG01868, HG00881, HG02477, NA12043, HG00734, HG01518, HG01775, HG04146, HG00536, NA20874, HG02108, NA20514, HG01675, NA11930, NA07037, NA19321, NA20522, NA20890, HG01700, NA18528, NA20278, NA20809, NA20503, HG01438, HG01072, NA20785, HG02697, NA18561, NA18933, HG00127, HG03084, HG04202, HG02546, HG02816, HG03703, HG01064, NA21123, HG03437, HG02799, HG03410, HG03304, HG00736, HG00384, HG01794, NA19003, NA19023, HG00261, HG01098, NA06989, NA20299, HG02006, NA18993, NA20881, HG01624, HG03301, HG03313, HG03643, NA20775, HG02979, NA11931, NA20511, HG01085, HG01431, NA12813, NA18877, HG00117, HG03709, NA20808, HG01528, HG03046, NA18969, NA20529, HG01685, HG02887, HG03124, HG02733, NA20342, HG00173, HG00326, HG01524, NA18573, NA20778, NA20786, NA21130, NA19184, HG02379, HG00190, HG01679, HG01131, NA19210, HG00106, NA19834, HG01204, HG01500, NA12776, HG03401, HG00651, NA19004, HG01571, HG03229, HG02232, NA19108, HG03485, HG01525, HG02778, HG03488, HG02976, NA12341, HG04061, HG01784, NA19043, NA20770, HG00342, HG04038, HG01311, HG02003, HG02836, HG03667, HG02455, HG01924, NA19067, NA20585, NA20854, HG04210, NA18998, NA20885, HG00371, HG01140, HG03127, NA18508, HG01456, HG01510, NA20819, HG02654, NA20356, NA20515, HG01028, NA12383, NA18566, NA18957, HG00337, HG02009, NA11994, NA19068, HG01865, HG02716, HG02050, HG03202, NA19900, NA20504, NA20757, HG02292, HG02577, HG03578, HG00372, HG02658, NA18991, HG03436, NA12814, HG01620, NA18856, NA19397, HG01795, HG03241, HG03727, HG03844, NA07048, NA19440, HG03805, HG01396, NA11933, HG00150, HG03965, HG00258, HG01977, HG02220, HG03024, HG03539, NA12829, NA19256, HG01136, HG01707, HG03604, NA19658, HG03864, NA19679, HG01628, HG03971, NA20773, HG00114, HG00867, HG02224, HG02941, HG03063, NA19676, HG02283, HG03773, HG00159, NA19153, HG01280, NA12046, NA21143, HG00108, HG02325, NA18645, HG03195, HG00360, NA20536, HG00268, HG01066, NA20767, NA20512, NA06985, NA18923, NA20826, HG01271, HG01914, NA06986, HG03511, NA20334, HG02804, HG01121, HG04173, HG03782, HG02439, NA19731, HG01369, HG04239, NA19901, HG04062, HG02611, HG03873, HG01699, HG00116, HG01139, HG01257, HG01889, HG03518, NA19347, NA20774, NA20828, NA19909, NA20582, HG04212, HG02384, HG02502, HG03433, HG00329, HG00341, HG01447, NA19707, HG00105, HG00246, HG02545, NA19074, NA19307, NA19318, HG00729, HG02614, NA19462, HG01598, HG03115, HG01149, HG00410, HG02406, HG03352, NA20858, NA21103, HG03108, HG01566, NA10851, HG01063, HG01162, NA19038, HG00443, HG01393, NA20357, NA19078, HG00611, HG03629, HG03790, NA12749, HG04047, NA18867, NA19403, HG03913, NA12156, HG03989, HG00262, HG00362, HG01303, NA18560, HG01112, NA19719, HG01669, HG02144, NA18602, HG02262, NA19099, HG02561, NA19649, HG01412, NA20507, HG03240, NA20846, HG02489, HG02465, NA21117, HG02891, HG01886, NA19160, NA19655, HG03025, NA18571, HG02476, HG01746, HG00367, HG02721, NA18984, HG03449, HG02485, HG04189, HG03388, HG00288, HG04054, HG03117, HG01522, NA19473, NA20524, HG01479, HG01631, HG03837, NA06994, HG00143, HG01678, HG01781, HG00336, NA12760, NA20502, NA20517, HG00272, NA19468, HG02493, HG04195, NA20519, HG00136, HG02215, NA12775, NA19121, HG01067, HG01536, HG02179, HG00128, HG03082, HG01607, HG03136, NA19012, HG03755, HG03968, NA19030, HG00252, HG02250, HG02291, HG03354, NA20787, NA19031, HG03760, NA18616, NA20771, NA21113, HG00234, HG01519, HG03762, NA19819, HG00129, HG00350, HG03711, HG00351, HG01173, HG01083, NA20510, HG02549, HG03129, NA18526, HG02601, HG01051, HG03419, HG02104, NA12828, NA19795, HG02722, HG02946, HG03571, NA19449, HG00148, HG01537, HG03111, NA12005, NA19019, HG03458, NA19379, HG01507, HG01762, NA20539, HG01958, HG02660, HG03103, HG01844, NA07051, NA19378, HG01168, HG04200, HG00113, NA20798, HG01608, NA19761, HG01171, HG03049, NA19143, NA20340, HG02870, HG03836, HG02982, NA12414, HG01107, NA19062, HG02731, HG00346, NA18967, HG01092, HG02699, HG03451, NA19390, NA20764, HG01378, NA20811, HG00358, HG00130, HG00096, HG01402, HG02554, HG01061, HG01709, NA18617, HG02772, HG01183, HG01694, HG02012, HG03717, HG00121, HG02385, HG02557, HG01684, HG02143, HG01879, HG00451, HG01867, HG00276, NA12777, HG01596, NA19042, HG00373, NA19380, HG01111, NA20587, NA12716, HG01465, HG00110, HG04141, HG03397, NA19384, HG00325, HG03473, NA19027, NA18968, HG02461, HG00851, HG02623, HG01281, NA19664, HG02429, HG01069, HG00102, HG03366, HG00103, NA20797, HG01630, NA21093, NA12283, HG01383, NA20813, HG00236, HG01531, NA19141, NA19777, HG00120, HG02219, HG03028, NA19235, HG02484, HG00445, HG02281, NA12272, HG02819, HG03589, NA18909, HG04022, HG03246, NA12413
Known GenesCREB5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3612674
Frequency
Sample Size2504
Observed Gain0
Observed Loss717
Observed Complex0
Frequencyn/a


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