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 Variantsessv12715533, essv12715084, essv12715129, essv12715275, essv12715408, essv12715175, essv12715446, essv12714956, essv12715548, essv12715138, essv12715024, essv12715126, essv12714985, essv12715323, essv12714962, essv12715449, essv12715496, essv12715529, essv12715321, essv12715165, essv12715164, essv12715580, essv12714967, essv12715372, essv12715006, essv12715190, essv12715212, essv12714885, essv12715394, essv12714991, essv12714918, essv12715178, essv12715182, essv12715535, essv12714949, essv12715269, essv12715008, essv12715180, essv12715026, essv12714890, essv12715390, essv12715046, essv12715389, essv12715192, essv12715360, essv12715562, essv12715340, essv12715011, essv12714888, essv12715419, essv12715179, essv12714954, essv12715553, essv12714973, essv12715337, essv12715317, essv12714910, essv12715176, essv12715511, essv12715229, essv12715431, essv12715518, essv12714995, essv12715243, essv12715461, essv12715288, essv12715544, essv12714966, essv12715041, essv12714979, essv12715491, essv12715482, essv12715029, essv12715054, essv12715350, essv12715073, essv12715044, essv12715440, essv12715369, essv12715096, essv12715184, essv12715344, essv12715023, essv12715259, essv12715174, essv12714892, essv12715362, essv12714897, essv12715424, essv12714896, essv12715402, essv12714950, essv12715329, essv12715012, essv12715539, essv12715193, essv12714920, essv12715391, essv12715238, essv12715213, essv12715505, essv12715432, essv12715064, essv12715561, essv12714934, essv12714941, essv12714912, essv12714959, essv12715257, essv12714998, essv12715445, essv12715187, essv12715072, essv12715105, essv12715550, essv12715294, essv12715441, essv12715397, essv12715409, essv12715057, essv12715405, essv12714961, essv12714968, essv12715469, essv12715314, essv12715234, essv12715076, essv12715473, essv12715090, essv12714943, essv12715442, essv12715249, essv12715508, essv12715498, essv12715088, essv12715563, essv12715075, essv12715311, essv12715551, essv12715102, essv12715559, essv12715411, essv12715517, essv12715155, essv12715214, essv12715183, essv12715055, essv12715278, essv12715506, essv12715591, essv12715127, essv12715342, essv12714911, essv12714904, essv12715448, essv12715587, essv12714951, essv12715284, essv12715022, essv12715322, essv12715256, essv12715031, essv12715113, essv12715097, essv12715005, essv12715472, essv12715315, essv12715430, essv12715144, essv12715326, essv12715302, essv12715420, essv12715252, essv12715241, essv12715406, essv12715051, essv12715089, essv12715062, essv12715572, essv12714978, essv12714953, essv12715140, essv12715032, essv12714925, essv12715447, essv12715456, essv12715577, essv12715133, essv12715386, essv12715319, essv12715240, essv12715141, essv12714879, essv12715522, essv12715166, essv12715328, essv12715077, essv12714915, essv12715457, essv12715027, essv12715512, essv12715093, essv12715327, essv12715513, essv12715490, essv12715298, essv12714964, essv12715205, essv12715483, essv12715215, essv12715048, essv12714923, essv12715085, essv12715168, essv12714927, essv12715382, essv12715418, essv12715378, essv12715267, essv12715177, essv12715083, essv12715080, essv12715009, essv12715484, essv12715359, essv12715348, essv12715487, essv12715125, essv12714981, essv12715590, essv12715444, essv12714969, essv12715169, essv12715079, essv12715146, essv12715039, essv12714994, essv12715202, essv12715501, essv12714919, essv12715549, essv12715285, essv12714989, essv12715120, essv12715276, essv12715308, essv12715246, essv12715510, essv12715476, essv12715347, essv12715167, essv12715231, essv12715415, essv12715547, essv12715247, essv12715263, essv12715106, essv12715492, essv12715335, essv12715564, essv12715458, essv12715363, essv12715502, essv12715224, essv12715462, essv12715466, essv12715366, essv12715416, essv12715163, essv12715383, essv12715316, essv12715188, essv12715100, essv12715154, essv12715566, essv12714886, essv12715423, essv12715346, essv12715045, essv12715013, essv12714970, essv12714930, essv12715244, essv12714914, essv12715503, essv12714977, essv12715135, essv12715042, essv12715493, essv12714882, essv12715233, essv12715575, essv12714913, essv12715250, essv12715186, essv12715588, essv12715576, essv12715436, essv12715116, essv12715067, essv12715071, essv12714992, essv12715477, essv12715392, essv12715156, essv12715114, essv12714924, essv12715379, essv12715173, essv12715251, essv12715053, essv12715583, essv12714908, essv12715066, essv12715376, essv12714972, essv12715157, essv12715000, essv12714982, essv12715404, essv12715273, essv12714980, essv12715123, essv12715201, essv12715452, essv12715554, essv12715525, essv12715112, essv12714901, essv12715455, essv12715381, essv12715507, essv12715061, essv12715374, essv12715283, essv12715235, essv12715545, essv12715581, essv12715056, essv12715181, essv12715428, essv12715497, essv12715514, essv12715421, essv12715260, essv12715108, essv12715017, essv12715151, essv12715530, essv12715218, essv12714976, essv12714971, essv12715016, essv12715443, essv12715069, essv12715470, essv12715161, essv12715018, essv12715153, essv12715573, essv12715227, essv12715142, essv12715282, essv12715325, essv12715050, essv12715122, essv12715543, essv12715368, essv12715410, essv12715413, essv12714906, essv12714921, essv12715401, essv12715020, essv12715414, essv12714957, essv12715095, essv12714891, essv12715471, essv12715197, essv12715082, essv12715537, essv12715538, essv12715343, essv12715309, essv12715025, essv12715399, essv12715204, essv12714936, essv12715367, essv12715279, essv12714905, essv12715480, essv12715358, essv12715400, essv12714948, essv12715485, essv12715500, essv12715332, essv12715519, essv12715145, essv12715221, essv12715467, essv12715118, essv12715216, essv12715209, essv12714909, essv12715494, essv12715552, essv12715242, essv12715489, essv12715584, essv12715567, essv12715014, essv12715307, essv12715295, essv12715571, essv12715370, essv12715373, essv12715289, essv12715330, essv12715318, essv12715396, essv12715019, essv12715486, essv12715109, essv12715546, essv12714986, essv12715377, essv12714893, essv12715435, essv12715515, essv12715101, essv12715002, essv12715115, essv12715351, essv12715200, essv12714916, essv12715198, essv12715021, essv12715162, essv12715312, essv12715265, essv12715107, essv12715303, essv12715509, essv12715398, essv12715211, essv12715206, essv12714932, essv12714974, essv12714952, essv12714947, essv12715253, essv12715094, essv12715208, essv12715131, essv12715028, essv12714895, essv12715450, essv12715196, essv12715385, essv12715574, essv12715459, essv12715407, essv12715305, essv12714922, essv12715534, essv12715460, essv12715438, essv12715219, essv12714899, essv12715585, essv12715542, essv12715356, essv12715266, essv12715586, essv12715578, essv12715049, essv12715034, essv12715593, essv12715245, essv12715110, essv12715478, essv12714889, essv12715293, essv12715464, essv12715345, essv12715532, essv12714937, essv12714990, essv12715277, essv12715170, essv12715068, essv12715047, essv12714984, essv12715195, essv12715353, essv12715043, essv12715237, essv12715015, essv12714999, essv12715286, essv12715261, essv12715531, essv12715070, essv12715171, essv12715361, essv12715007, essv12714917, essv12715121, essv12715331, essv12714996, essv12715189, essv12715393, essv12715255, essv12714877, essv12715037, essv12714887, essv12715060, essv12715570, essv12715098, essv12715280, essv12715556, essv12715334, essv12715248, essv12714884, essv12715357, essv12715132, essv12715417, essv12714993, essv12715528, essv12714935, essv12715228, essv12715524, essv12715569, essv12715300, essv12715254, essv12715555, essv12715270, essv12715310, essv12715194, essv12715059, essv12715220, essv12715086, essv12714926, essv12715468, essv12714958, essv12715589, essv12715222, essv12715297, essv12715117, essv12715320, essv12715568, essv12715290, essv12715425, essv12715352, essv12715074, essv12715147, essv12715040, essv12715481, essv12715365, essv12715454, essv12715437, essv12715504, essv12715065, essv12715143, essv12715427, essv12715230, essv12714929, essv12714900, essv12715384, essv12715453, essv12714878, essv12715380, essv12715412, essv12715296, essv12715422, essv12714975, essv12715526, essv12715191, essv12715281, essv12715103, essv12715078, essv12715239, essv12715306, essv12715217, essv12715159, essv12715541, essv12715560, essv12715341, essv12715134, essv12714942, essv12715520, essv12715203, essv12715565, essv12714955, essv12714933, essv12715592, essv12715371, essv12714880, essv12715433, essv12715207, essv12715488, essv12715429, essv12714881, essv12715137, essv12715333, essv12715087, essv12715355, essv12714883, essv12715210, essv12715150, essv12715119, essv12714960, essv12715152, essv12715499, essv12715403, essv12715172, essv12715354, essv12715052, essv12715304, essv12715091, essv12715299, essv12715063, essv12714945, essv12715111, essv12715274, essv12715387, essv12715262, essv12715272, essv12715495, essv12715291, essv12715258, essv12714944, essv12715375, essv12714946, essv12715030, essv12715081, essv12715439, essv12715395, essv12714987, essv12714965, essv12715521, essv12715301, essv12714903, essv12715158, essv12715124, essv12715128, essv12715527, essv12714940, essv12715579, essv12715339, essv12715058, essv12715349, essv12715148, essv12715523, essv12715324, essv12715104, essv12715236, essv12715465, essv12715038, essv12715035, essv12714894, essv12715463, essv12715434, essv12715287, essv12715474, essv12715149, essv12715223, essv12715232, essv12714907, essv12715558, essv12715003, essv12714928, essv12715136, essv12715271, essv12715092, essv12715475, essv12715226, essv12714938, essv12715004, essv12714902, essv12715160, essv12715099, essv12715426, essv12714939, essv12715225, essv12715516, essv12715036, essv12715338, essv12715033, essv12714988, essv12715336, essv12715264, essv12715292, essv12715130, essv12714898, essv12714997, essv12715536, essv12715451, essv12715313, essv12715001, essv12714963, essv12714983, essv12715139, essv12715479, essv12714931, essv12715185, essv12715582, essv12715557, essv12715268, essv12715364, essv12715388, essv12715199, essv12715540, essv12715010
SamplesHG01986, HG01402, NA20529, HG03228, NA18947, NA19664, HG00384, HG04222, NA12414, HG04060, NA19378, NA11931, HG03717, HG03241, HG03449, HG02836, HG00233, NA20512, NA18528, HG00729, HG02050, HG02215, HG03193, HG01518, NA20359, NA20806, NA19067, HG00337, NA12813, HG03837, NA19379, NA20798, HG01167, NA21130, HG02521, NA18993, HG00129, HG03913, NA07048, HG02645, HG01528, HG01083, HG01063, HG01365, HG03040, NA19384, HG00243, HG00158, HG00139, HG00130, HG02561, HG00335, NA20775, HG01519, HG03045, HG02642, HG04047, HG00326, NA20757, NA18867, NA20515, NA12777, NA20904, NA12760, NA20800, HG03132, HG01867, HG01200, HG03511, HG02070, HG04146, HG03718, HG03088, NA12878, HG01684, NA19184, HG01879, NA19043, HG02731, HG03711, HG02144, HG03771, HG01498, NA20519, NA12234, HG01630, HG03829, HG03301, NA18879, HG01762, NA12829, HG04173, NA06989, HG03024, HG04063, HG03451, HG02601, HG02256, HG00463, NA19318, NA12778, HG02219, HG02896, HG04093, HG01107, HG02675, HG00376, HG04200, HG01896, HG01257, HG02772, HG00611, HG04025, NA19440, HG02557, HG00336, NA19256, HG03539, HG02546, NA19454, HG02721, HG03920, HG03458, HG03117, NA20520, HG02232, HG01620, HG03473, HG00116, HG02580, NA20281, NA19360, HG03703, HG03103, HG02379, NA18631, NA19223, NA19779, HG03313, HG00267, HG03351, NA19102, HG01631, HG00112, HG02291, NA20826, HG03401, HG01914, HG01794, NA20503, NA19121, HG02406, NA19074, NA19431, HG03989, HG03864, HG01507, HG00096, NA18998, HG02614, NA20874, HG00114, HG01746, HG03559, HG01441, HG01795, HG00121, NA20853, NA19397, HG01303, HG03965, NA12814, HG01537, HG02262, HG02035, NA18561, HG04202, NA11933, HG03589, NA20813, NA18877, HG02476, NA19819, NA12004, NA20808, HG00341, HG00150, NA20507, NA18526, NA12413, NA12341, HG01924, HG01500, NA19068, HG01341, NA12812, HG00109, NA20890, HG01064, HG02541, HG02325, HG00173, HG02549, HG00736, NA19649, HG03246, HG03105, NA19023, HG03629, HG03762, NA19038, NA12761, HG01893, NA12005, HG02493, HG00120, HG02003, HG00106, HG02224, HG00236, HG00262, NA19719, NA20340, NA18560, HG04106, NA18617, NA19471, NA19087, HG02420, HG03352, NA19026, HG02946, NA20764, NA12828, NA20587, HG00464, HG00108, HG02819, HG01699, HG01524, HG03709, HG01784, HG01136, HG00183, NA20858, NA19707, NA20787, NA20524, HG04062, HG02334, HG02697, HG02236, NA19462, NA19347, HG03760, NA20809, NA20536, NA18991, HG02554, NA20770, HG02976, HG02555, HG00844, NA19655, HG00373, HG03202, HG00110, HG03397, HG01707, NA19031, HG01383, NA20881, NA19001, HG04189, HG02283, HG03571, HG01842, HG01679, NA06985, NA20828, HG01865, NA19160, HG00445, HG01700, HG00128, NA21143, HG03028, HG00119, NA19834, NA19108, NA12775, HG04239, HG00136, HG03689, NA20351, NA07051, HG01598, HG03433, HG03127, NA20504, HG01260, HG03419, NA19376, NA19143, NA19078, HG03432, NA20582, NA19472, HG01028, HG03025, HG00329, NA12749, HG00288, HG01085, HG04209, HG00372, HG00252, HG01377, NA18984, NA19004, HG04161, HG01886, NA19153, NA20511, NA12383, HG04210, NA19701, HG02658, HG01412, HG01173, HG02628, HG00143, NA19909, HG02385, HG00102, HG01624, NA18508, NA10851, HG00358, HG02375, HG03111, NA20514, HG01066, NA20752, HG03115, HG02012, NA19350, HG02804, HG03229, NA18616, NA20517, HG02384, HG01051, NA20356, HG00261, HG00097, NA20771, HG03999, NA18602, HG01522, NA18969, HG00271, HG03782, HG03436, NA21135, HG00272, HG04038, NA19307, NA20774, HG01168, NA18923, HG03604, NA19062, HG03578, NA18571, HG02733, HG00334, NA20287, HG01372, HG00451, HG02816, NA11930, NA20539, NA19923, HG02143, HG01069, HG02252, HG00867, NA20278, HG00148, NA12156, HG00325, NA11932, HG00113, NA11994, HG00534, NA19235, HG01525, HG01844, HG02545, HG01048, HG01709, HG01121, NA20342, HG02623, HG01275, HG02477, HG00365, NA19027, HG01256, NA18645, HG02716, HG00443, HG00268, HG01171, HG00380, NA19403, HG01669, HG00360, NA20885, NA18933, HG04195, HG01882, HG02887, HG00275, HG01345, HG01077, HG03805, HG01149, HG01675, HG01607, HG00551, HG01889, HG04235, HG00284, NA18573, NA11919, HG02429, HG00651, HG01536, HG02577, HG00350, NA19042, HG03388, HG03643, NA19752, HG03953, NA19099, HG03971, HG02979, NA19761, HG03046, HG01474, NA12144, HG00246, NA19012, HG03653, HG02722, NA12043, HG02660, HG01148, NA19003, HG00258, NA21117, NA19390, HG03437, NA19019, HG01678, HG01131, HG02220, NA12272, HG01685, HG00734, HG01396, HG02611, NA21123, NA20530, NA20362, HG01375, HG02982, NA20778, HG03469, HG02179, NA19679, HG02941, HG03304, NA20544, HG01137, HG03727, NA06994, HG00259, HG01868, HG00342, NA19468, HG03063, NA20510, NA18636, NA21093, NA19185, NA20786, NA11843, NA20758, NA19116, HG03077, HG01468, NA19900, HG01479, HG00105, NA19030, NA20502, HG01431, NA18957, NA11892, HG01111, NA19312, HG02778, NA18968, NA18623, NA20585, NA12154, HG04061, NA19676, HG04198, HG04212, HG00881, HG03773, HG02890, NA19141, HG03366, NA11830, HG01098, HG02250, HG00536, HG01438, NA11829, HG02298, HG01773, HG00351, HG00187, HG01280, HG02891, HG00367, NA19795, HG02870, HG01465, HG00103, HG01686, HG01531, NA20805, NA19777, HG01456, HG00566, HG03667, HG03518, HG03792, HG03836, HG01694, HG01140, NA20846, NA18967, HG03082, HG01571, HG00127, NA20796, HG01366, HG04022, HG02485, HG03873, NA20317, HG03485, NA12348, HG03885, HG00851, HG00346, NA12283, NA21103, HG01510, HG01393, HG02922, HG02489, HG02505, HG02281, HG01067, HG03968, NA20819, HG01628, HG02461, HG01072, HG01281, NA19731, HG01369, HG03195, HG03696, HG01440, NA20845, NA20811, NA19901, HG02502, HG02104, HG00159, HG02715, HG00739, NA11831, HG02009, HG01183, HG01139, HG00290, NA20854, HG03844, HG02439, NA19210, HG03054, HG02233, HG00190, HG01271, HG03547, HG01162, HG01515, NA19913, HG02108, HG01088, HG01119, NA19658, NA20767, HG03124, NA18757, HG01092, HG03311, HG01447, HG01390, NA18566, HG01311, NA20299, NA19449, HG03136, HG04054, NA18856, HG02649, HG00117, HG00613, HG00525, NA19320, NA12827, HG02292, HG00276, HG02585, HG03755, HG03354, HG00410, HG01596, HG01204, HG02484, HG02813, NA21087, HG02455, NA21113, NA20773, NA20522, NA12716, HG03790, NA18909, HG03240, NA19321, HG02799, NA19473, HG02682, NA19037, HG01958, HG00623, NA19380, NA20785, NA12046, HG01977, HG03488, HG02839, NA20797, NA12874, NA07037, HG03108, NA06986, HG04141, NA19475, HG03084, HG00107, NA20357, HG00111, HG00371, HG01770, HG03896, HG02230, HG03049, HG02699, HG02654, NA20334, HG00123, HG03916, HG03410, HG00234, HG01781, HG01105, HG03882, HG01775, HG01378, HG01082, HG04056, HG02465, NA20763, HG01566, HG01112, HG00554, HG03129, HG02006, HG01695, HG01061, HG00362, NA12776, HG01608
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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