A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608493



Internal ID6648731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:29883395..29936738hg38UCSC Ensembl
Innerchr6:29883395..29936738hg38UCSC Ensembl
Outerchr6:29882895..29937238hg38UCSC Ensembl
chr6:29851172..29904515hg19UCSC Ensembl
Innerchr6:29851172..29904515hg19UCSC Ensembl
Outerchr6:29850672..29905015hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg3853344
hg1953344
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12244263, essv12244023, essv12244500, essv12243911, essv12243972, essv12244566, essv12244410, essv12244102, essv12244517, essv12244175, essv12244262, essv12244337, essv12244547, essv12244531, essv12244293, essv12244351, essv12244450, essv12243955, essv12243987, essv12244424, essv12244062, essv12244204, essv12244184, essv12244004, essv12243982, essv12244550, essv12243992, essv12244394, essv12244080, essv12244110, essv12244253, essv12244243, essv12244192, essv12243931, essv12244172, essv12243891, essv12243946, essv12244000, essv12244468, essv12244069, essv12244434, essv12244010, essv12244208, essv12244065, essv12244477, essv12244577, essv12244378, essv12244446, essv12244534, essv12244053, essv12244215, essv12243897, essv12244324, essv12244033, essv12244029, essv12243890, essv12244247, essv12244371, essv12243928, essv12244317, essv12244496, essv12244334, essv12244526, essv12244312, essv12243903, essv12244059, essv12244270, essv12244451, essv12244140, essv12244194, essv12244538, essv12243886, essv12244027, essv12244376, essv12244508, essv12244283, essv12244333, essv12244543, essv12244165, essv12244396, essv12244179, essv12244342, essv12244525, essv12243889, essv12244266, essv12244151, essv12244421, essv12243898, essv12244088, essv12244556, essv12244226, essv12244413, essv12243900, essv12244469, essv12244498, essv12244524, essv12244251, essv12244564, essv12244176, essv12244301, essv12244419, essv12244128, essv12244411, essv12244399, essv12243965, essv12244035, essv12244217, essv12243974, essv12244142, essv12243936, essv12244070, essv12244079, essv12244475, essv12244100, essv12244005, essv12244055, essv12244108, essv12244467, essv12244397, essv12244148, essv12244150, essv12244320, essv12244350, essv12244393, essv12243910, essv12243981, essv12244037, essv12244099, essv12244047, essv12244491, essv12243933, essv12244155, essv12244416, essv12244546, essv12244355, essv12244325, essv12244460, essv12243932, essv12244278, essv12244430, essv12243951, essv12244044, essv12244423, essv12244046, essv12244170, essv12244521, essv12244360, essv12244555, essv12244281, essv12244385, essv12243920, essv12243925, essv12243978, essv12244289, essv12244002, essv12244139, essv12243904, essv12243916, essv12244040, essv12244436, essv12244075, essv12244288, essv12244171, essv12244163, essv12244137, essv12244458, essv12244553, essv12244072, essv12244123, essv12244501, essv12244391, essv12243934, essv12244265, essv12244417, essv12244271, essv12243962, essv12244461, essv12244470, essv12244332, essv12243887, essv12244203, essv12243998, essv12243921, essv12244328, essv12244114, essv12244300, essv12244541, essv12244327, essv12244479, essv12243892, essv12244213, essv12244441, essv12244143, essv12243961, essv12244359, essv12244422, essv12243909, essv12244311, essv12244330, essv12244401, essv12243963, essv12244007, essv12244539, essv12244104, essv12244340, essv12244502, essv12243985, essv12244272, essv12243930, essv12244238, essv12244420, essv12243899, essv12243923, essv12243964, essv12244064, essv12244412, essv12244153, essv12244495, essv12244051, essv12244519, essv12244222, essv12244383, essv12243999, essv12244511, essv12244109, essv12244180, essv12244231, essv12244384, essv12244286, essv12244057, essv12244041, essv12244049, essv12244199, essv12244276, essv12244497, essv12244060, essv12244459, essv12244061, essv12244001, essv12244026, essv12244186, essv12244241, essv12244549, essv12243901, essv12243895, essv12244156, essv12243888, essv12244453, essv12244339, essv12243995, essv12244493, essv12244449, essv12244038, essv12244336, essv12244515, essv12244309, essv12244561, essv12244169, essv12244264, essv12244514, essv12244533, essv12243976, essv12244455, essv12244025, essv12244335, essv12244361, essv12244157, essv12244356, essv12244400, essv12244576, essv12244034, essv12244319, essv12244021, essv12244162, essv12244341, essv12244354, essv12244087, essv12244258, essv12244540, essv12244091, essv12244439, essv12244426, essv12244462, essv12244201, essv12244207, essv12244295, essv12244466, essv12244273, essv12244338, essv12244073, essv12244229, essv12243994, essv12243893, essv12244197, essv12244308, essv12244505, essv12244239, essv12244415, essv12244280, essv12244494, essv12243947, essv12244357, essv12244058, essv12244076, essv12244116, essv12244185, essv12244329, essv12244030, essv12244089, essv12243984, essv12243908, essv12244364, essv12244409, essv12244146, essv12244480, essv12244380, essv12244028, essv12244228, essv12244366, essv12244237, essv12244331, essv12244387, essv12244124, essv12244130, essv12244235, essv12244345, essv12244530, essv12244022, essv12244536, essv12244101, essv12244182, essv12243924, essv12243959, essv12244019, essv12244120, essv12244456, essv12244248, essv12244274, essv12244277, essv12244164, essv12244563, essv12243952, essv12243956, essv12244094, essv12244323, essv12244382, essv12243954, essv12243885, essv12243894, essv12243958, essv12244437, essv12244392, essv12244147, essv12244122, essv12244031, essv12243988, essv12244485, essv12244240, essv12244313, essv12244504, essv12243906, essv12244077, essv12244418, essv12244291, essv12244432, essv12244209, essv12244363, essv12244431, essv12244074, essv12244255, essv12244284, essv12244532, essv12244068, essv12244269, essv12244407, essv12243977, essv12243912, essv12243938, essv12244575, essv12244438, essv12244003, essv12243914, essv12243917, essv12244081, essv12244145, essv12244529, essv12244214, essv12243905, essv12244177, essv12244448, essv12244043, essv12244489, essv12244492, essv12244098, essv12244299, essv12244503, essv12244212, essv12244304, essv12244457, essv12244454, essv12244121, essv12243945, essv12244463, essv12244346, essv12243896, essv12243937, essv12244294, essv12244535, essv12244435, essv12244112, essv12244168, essv12244573, essv12244193, essv12243927, essv12243993, essv12244322, essv12244188, essv12244471, essv12244562, essv12244574, essv12244202, essv12243943, essv12244042, essv12244314, essv12244190, essv12244572, essv12244375, essv12244298, essv12244445, essv12244161, essv12243929, essv12244118, essv12244191, essv12244406, essv12244017, essv12244513, essv12244006, essv12244134, essv12244279, essv12244554, essv12244054, essv12244107, essv12244557, essv12244443, essv12244565, essv12244408, essv12244216, essv12244428, essv12244499, essv12243983, essv12244014, essv12244011, essv12244008, essv12244189, essv12244254, essv12244369, essv12244545, essv12244347, essv12244115, essv12244374, essv12244482, essv12244227, essv12244433, essv12244523, essv12244548, essv12244160, essv12244196, essv12244552, essv12244103, essv12244440, essv12244083, essv12244119, essv12243915, essv12244542, essv12244365, essv12244487, essv12244158, essv12244078, essv12244551, essv12244024, essv12244259, essv12244464, essv12244127, essv12244236, essv12244234, essv12244358, essv12244425, essv12244132, essv12244096, essv12244344, essv12244373, essv12244166, essv12244444, essv12243975, essv12244013, essv12244537, essv12244318, essv12244486, essv12244472, essv12244509, essv12243986, essv12244056, essv12244442, essv12244016, essv12244063, essv12244290, essv12243942, essv12244395, essv12243989, essv12244483, essv12243884, essv12244256, essv12244296, essv12244261, essv12244403, essv12243940, essv12244303, essv12244349, essv12244009, essv12243960, essv12244020, essv12244138, essv12243970, essv12244381, essv12244211, essv12244205, essv12244386, essv12244390, essv12243939, essv12244085, essv12244372, essv12243966, essv12244167, essv12244512, essv12243973, essv12244507, essv12244149, essv12244249, essv12244316, essv12244544, essv12244129, essv12244219, essv12244267, essv12244370, essv12243922, essv12243948, essv12244133, essv12244260, essv12244560, essv12244429, essv12243919, essv12244490, essv12244379, essv12244402, essv12243980, essv12244093, essv12244275, essv12244302, essv12243996, essv12244520, essv12244568, essv12244067, essv12244125, essv12244045, essv12244567, essv12243957, essv12243918, essv12243969, essv12244181, essv12244476, essv12244223, essv12244427, essv12244367, essv12244287, essv12244071, essv12243907, essv12244012, essv12243971, essv12243997, essv12244404, essv12243991, essv12243941, essv12243953, essv12244090, essv12244152, essv12244297, essv12244315, essv12244571, essv12244066, essv12244377, essv12244447, essv12244478, essv12243979, essv12244510, essv12244131, essv12244232, essv12244245, essv12244362, essv12244353, essv12244198, essv12244218, essv12244242, essv12244282, essv12244310, essv12244474, essv12244230, essv12244465, essv12244352, essv12243968, essv12244518, essv12243935, essv12244484, essv12244082, essv12244097, essv12244144, essv12244292, essv12244246, essv12244578, essv12243949, essv12244173, essv12244206, essv12244210, essv12244221, essv12244348, essv12244398, essv12244388, essv12244527, essv12244141, essv12244244, essv12244111, essv12244224, essv12244321, essv12244558, essv12244569, essv12244559, essv12244154, essv12244187, essv12244257, essv12244032, essv12244405, essv12243950, essv12244048, essv12244233, essv12244516, essv12243944, essv12244368, essv12244343, essv12244050, essv12244488, essv12244092, essv12244389, essv12243926, essv12244159, essv12244506, essv12244528, essv12244113, essv12244285, essv12244174, essv12244135, essv12244307, essv12244195, essv12244084, essv12244200, essv12244414, essv12243990, essv12244268, essv12244136, essv12244481, essv12244183, essv12244052, essv12244305, essv12244105, essv12244106, essv12244522, essv12244117, essv12244473, essv12244326, essv12243902, essv12244018, essv12244086, essv12244306, essv12244036, essv12244015, essv12244225, essv12244178, essv12244126, essv12243967, essv12244220, essv12244252, essv12244570, essv12244250, essv12244039, essv12244095, essv12244452, essv12243913
SamplesHG02470, HG02879, HG00613, HG01441, NA20876, HG03015, HG03705, HG02275, NA18951, HG03729, HG01896, NA18530, NA18535, NA12286, NA19081, NA21110, HG01941, NA20752, HG00705, HG02661, HG01882, HG00112, HG02727, NA18757, NA12347, NA19093, HG02334, HG02896, HG00632, HG01079, HG01845, HG02152, HG01389, HG03896, HG01365, NA19923, NA19331, HG04229, HG01488, HG00428, NA18947, NA20362, NA18865, HG02029, HG03920, HG00139, HG00739, HG02977, HG02375, NA18507, NA20805, HG00404, HG02277, NA20763, HG01101, NA19701, HG02150, HG04023, NA18950, HG02973, NA20412, HG02775, HG03461, NA20875, NA18627, NA19076, NA12004, HG01305, HG03882, HG02233, NA18623, NA19471, HG03624, NA18990, HG04198, NA18636, HG01124, NA18592, NA19088, NA12761, HG02410, HG03793, NA18959, HG03520, NA21116, HG01501, NA11894, HG04063, NA18593, NA19457, NA19086, NA19324, NA19728, HG02076, NA19000, NA19055, HG01443, HG02392, HG00097, HG02236, HG00267, HG03786, NA20760, HG02285, HG03673, NA12275, NA11892, HG03788, NA19001, HG01494, NA20766, HG04093, HG01894, HG02072, HG02113, HG03577, NA20813, HG02586, HG03228, HG03692, NA19789, HG00236, HG02190, HG01921, HG02881, HG04235, NA18940, HG01565, HG01094, HG00445, HG02281, NA18597, HG01190, NA19138, NA20756, HG01095, HG03888, HG02819, NA18909, HG00717, HG03009, NA18538, HG04019, HG03990, NA19009, HG03771, NA21109, NA19116, HG03267, NA21087, HG03172, NA20274, NA20287, HG00118, HG03078, HG00608, HG00654, HG03105, NA18879, NA21086, HG02252, HG04018, NA19740, HG01485, HG02687, HG01804, NA18944, NA19225, HG03259, NA12546, HG01323, HG01164, HG02256, HG04177, NA18924, NA19006, NA19198, HG03640, NA20758, NA20872, NA20792, HG01119, HG00566, HG02642, NA19346, HG01498, HG00690, HG01985, HG00641, HG03802, NA12874, HG02798, HG02620, HG03885, HG02505, NA19454, HG00622, HG00671, HG02332, NA21091, HG02860, HG03907, NA19661, HG04182, HG03991, HG00126, HG03777, HG00531, NA18629, HG03775, HG02253, HG03689, HG03937, NA18962, HG00323, HG04131, NA20281, HG01372, HG03821, NA19913, HG01515, HG02427, NA20887, NA19625, HG03698, HG04146, NA21142, HG00356, NA20874, HG01798, HG02108, NA20514, HG01675, NA11930, HG01603, NA20522, HG01250, HG02116, NA20859, HG00743, HG01130, HG04003, NA20866, HG03977, NA18561, HG01918, HG02025, HG01055, NA18952, HG00145, HG02086, NA18874, NA20906, HG00731, HG00596, HG01944, HG00879, HG03055, NA20508, HG01849, HG03196, NA19149, HG01794, NA19072, HG04014, NA18639, HG01624, HG03611, NA19317, HG01085, HG01431, NA12813, HG02952, HG01492, HG01528, HG03894, NA18969, NA18972, HG01685, NA19010, HG02887, HG03124, HG01524, NA18608, NA21130, NA19184, HG01286, HG02105, HG03048, HG01704, HG00701, HG01680, HG02231, HG03294, NA19834, HG01188, NA19017, HG02790, HG01461, HG02760, HG03019, HG03548, NA19004, NA19678, HG03229, HG00366, NA20895, HG02789, HG03457, HG04061, NA19776, HG00479, HG02811, HG01784, HG01435, HG04076, HG04038, HG02008, NA19067, NA20585, HG03470, HG04210, NA18998, HG01140, HG02137, HG03235, NA18992, HG03672, NA19059, HG00472, HG00583, HG01672, HG01414, NA18957, NA18960, HG02050, NA18618, HG02142, NA07357, NA19900, NA18644, NA19011, HG02968, HG03774, NA12873, HG01495, HG01851, NA18991, HG00689, HG02373, HG00141, HG00628, HG03862, NA18638, NA19066, HG00631, HG03445, NA20765, HG00419, HG02851, HG01997, HG03100, NA12829, HG01113, HG01527, NA18973, NA19835, NA20282, NA19773, HG02356, HG03027, NA18982, HG03864, NA19056, NA19663, NA20892, HG02595, HG03166, HG03600, NA18634, NA18643, HG00237, HG01599, HG00584, HG03848, NA18970, HG00867, HG01497, HG02941, HG00436, HG02058, HG02283, HG02888, HG00620, HG02840, HG00108, HG02325, NA19759, HG01705, HG01413, NA18525, HG00360, NA18572, NA18954, HG03995, NA20512, HG00382, NA18923, NA20826, HG03743, HG00559, HG02278, HG01455, HG03511, HG04070, HG02804, HG03754, NA18502, HG00560, NA20864, NA20540, HG01073, HG01853, NA18558, NA18977, HG00239, HG03944, NA18941, HG01369, HG04080, NA19901, HG03849, HG03974, HG01176, HG01356, HG02343, HG03740, NA19175, NA20814, HG00478, HG01923, NA18942, HG01139, HG03518, HG04029, NA20774, NA18613, NA20582, HG03428, NA18997, HG03433, NA18988, NA19074, NA19159, HG01060, HG02479, NA19091, HG00729, HG02614, NA18985, HG01598, HG03115, HG03943, HG02026, HG00410, NA21103, HG01566, HG03363, NA10851, NA18582, NA18999, NA20581, HG01063, HG01162, HG02301, HG01326, HG03237, HG04155, HG01393, NA18599, NA20357, HG02923, HG01973, NA19078, HG01334, HG01626, HG03789, NA18995, HG03679, NA19403, HG01872, HG02688, HG03061, HG03694, NA18565, HG00663, HG03644, HG03989, NA19741, HG03556, HG00409, HG00378, NA18971, HG02144, NA18602, HG02481, NA19099, HG02141, HG02561, HG03905, NA19649, NA20507, NA18946, NA19064, HG01464, NA19749, NA19063, NA19327, NA21117, HG02891, HG01593, HG02679, NA19655, HG01058, HG03809, NA18571, HG02476, HG01855, HG01251, NA19118, HG02721, NA18984, HG00693, HG03060, HG01125, HG04189, NA19171, HG03838, HG03388, NA20528, NA19079, NA20524, HG01631, HG03976, NA19758, HG00476, HG02013, NA12760, HG01857, NA20517, NA19200, NA19456, HG01602, HG02820, HG02130, HG03824, NA19058, HG01067, NA20863, HG00361, HG01198, HG02610, HG03082, NA19012, HG03755, NA18621, NA20903, HG03135, HG04225, HG02107, NA12489, HG03900, HG03760, NA18616, HG01530, HG01353, HG03479, HG03744, HG03711, HG00351, HG01859, HG03478, NA20510, HG03741, NA18526, NA20535, HG00160, HG02223, NA12815, NA18545, HG03057, HG01051, HG03133, HG04090, HG01615, HG03419, NA20902, HG02104, NA12828, HG03571, HG03111, HG03746, HG01350, HG01507, HG01708, NA18994, HG01344, HG03951, HG03967, HG04176, HG01142, NA20798, HG04140, NA18745, NA20755, NA20521, NA19761, HG01840, NA18596, NA18949, NA19143, HG03803, HG02870, HG02982, NA12414, NA19077, HG02259, HG03955, NA19062, HG01550, NA18979, NA19085, HG04206, NA18967, HG01092, NA20849, NA19735, HG00593, HG01392, HG02462, HG02646, HG02700, HG01378, NA18536, HG04164, NA18622, HG00130, HG01061, NA18641, HG01183, HG01694, HG02012, HG00121, HG03926, HG03007, HG00125, HG01589, HG01879, HG04042, NA18916, HG00174, HG00634, NA12777, HG01362, HG01747, HG02737, HG01242, HG01437, HG03126, NA19395, NA19786, NA20587, NA19129, HG02185, HG02449, HG02537, HG02054, HG00383, HG03870, NA20795, NA18986, HG00851, NA19119, NA21141, HG02573, HG03934, NA19664, HG02429, HG01069, HG02069, NA18961, HG01080, HG03800, HG02087, HG04162
Known GenesHCG4B, HLA-H
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3608493
Frequency
Sample Size2504
Observed Gain0
Observed Loss695
Observed Complex0
Frequencyn/a


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