A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3616192



Internal ID7003079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:9640342..9643453hg38UCSC Ensembl
Innerchr8:9640342..9643453hg38UCSC Ensembl
Outerchr8:9639939..9643881hg38UCSC Ensembl
chr8:9497852..9500963hg19UCSC Ensembl
Innerchr8:9497852..9500963hg19UCSC Ensembl
Outerchr8:9497449..9501391hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg383112
hg193112
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13097227, essv13097453, essv13096874, essv13096936, essv13096889, essv13097121, essv13097412, essv13097397, essv13097312, essv13097392, essv13097200, essv13097426, essv13096814, essv13097173, essv13096913, essv13096797, essv13096921, essv13097058, essv13096791, essv13097436, essv13097021, essv13097391, essv13097206, essv13096799, essv13097005, essv13097025, essv13097388, essv13097451, essv13096890, essv13097148, essv13096938, essv13097480, essv13097180, essv13096817, essv13097253, essv13096794, essv13096812, essv13097250, essv13096846, essv13096999, essv13096789, essv13097328, essv13097050, essv13097320, essv13096803, essv13096885, essv13097139, essv13097166, essv13096788, essv13097217, essv13096964, essv13097498, essv13097149, essv13097324, essv13096902, essv13096859, essv13097031, essv13096869, essv13096945, essv13097003, essv13097100, essv13097222, essv13097220, essv13097026, essv13097198, essv13097147, essv13096825, essv13097360, essv13097086, essv13097115, essv13097212, essv13097189, essv13097403, essv13097030, essv13097467, essv13097330, essv13097307, essv13097009, essv13096962, essv13096942, essv13097377, essv13096944, essv13097093, essv13096959, essv13097071, essv13097223, essv13097340, essv13096894, essv13097097, essv13096991, essv13096818, essv13097445, essv13097145, essv13097355, essv13097091, essv13096996, essv13097259, essv13096987, essv13097183, essv13097028, essv13097295, essv13097475, essv13097063, essv13096918, essv13097085, essv13097075, essv13097376, essv13097379, essv13096909, essv13097329, essv13097255, essv13097243, essv13097233, essv13097484, essv13097374, essv13096956, essv13097435, essv13097409, essv13096856, essv13096848, essv13096827, essv13097241, essv13097012, essv13096990, essv13097135, essv13097018, essv13097420, essv13096810, essv13097402, essv13097349, essv13097264, essv13097034, essv13096805, essv13097070, essv13096819, essv13097439, essv13097235, essv13096907, essv13097275, essv13096966, essv13097225, essv13097123, essv13096838, essv13097437, essv13097132, essv13097481, essv13097240, essv13096941, essv13097104, essv13096878, essv13097211, essv13097175, essv13097339, essv13097325, essv13097193, essv13097303, essv13097232, essv13097442, essv13097472, essv13096826, essv13097322, essv13096963, essv13097406, essv13097298, essv13097389, essv13097046, essv13097386, essv13097332, essv13097365, essv13097288, essv13097106, essv13096868, essv13096863, essv13097024, essv13097383, essv13097182, essv13097065, essv13097219, essv13096980, essv13097229, essv13097119, essv13097456, essv13097310, essv13096875, essv13096824, essv13097092, essv13097476, essv13096881, essv13096820, essv13097133, essv13096940, essv13097432, essv13097348, essv13097160, essv13097007, essv13096865, essv13097350, essv13097260, essv13097156, essv13097112, essv13097095, essv13096871, essv13097029, essv13097179, essv13097462, essv13097011, essv13097013, essv13097493, essv13097168, essv13097228, essv13097373, essv13096821, essv13096836, essv13097244, essv13097084, essv13097047, essv13097410, essv13097258, essv13096870, essv13096801, essv13096950, essv13096939, essv13097186, essv13097305, essv13096922, essv13097205, essv13097096, essv13097136, essv13097459, essv13097361, essv13096954, essv13096837, essv13097479, essv13097040, essv13097299, essv13097157, essv13097114, essv13097499, essv13097497, essv13097281, essv13096898, essv13097313, essv13097197, essv13096823, essv13097261, essv13096790, essv13097384, essv13096843, essv13097416, essv13097001, essv13097375, essv13097457, essv13097177, essv13096965, essv13096779, essv13097239, essv13097357, essv13097301, essv13097077, essv13097083, essv13097062, essv13097172, essv13096860, essv13097326, essv13097207, essv13096864, essv13097306, essv13097178, essv13097351, essv13097099, essv13097494, essv13097316, essv13097314, essv13096926, essv13097226, essv13096835, essv13096970, essv13096911, essv13097489, essv13097469, essv13096906, essv13097045, essv13096840, essv13096935, essv13097423, essv13097010, essv13097278, essv13097037, essv13097270, essv13096983, essv13097006, essv13096946, essv13097418, essv13096883, essv13097082, essv13097354, essv13097167, essv13097208, essv13096807, essv13096917, essv13096815, essv13096787, essv13097362, essv13096795, essv13097236, essv13096786, essv13096892, essv13097103, essv13097057, essv13097137, essv13097194, essv13096832, essv13096781, essv13097159, essv13096997, essv13097190, essv13096914, essv13096857, essv13097414, essv13097408, essv13097344, essv13097488, essv13097341, essv13097069, essv13097052, essv13097252, essv13097224, essv13097387, essv13097447, essv13096783, essv13097381, essv13096930, essv13097413, essv13097150, essv13096831, essv13097002, essv13097074, essv13097404, essv13097317, essv13096975, essv13096847, essv13097485, essv13096887, essv13097308, essv13096879, essv13097285, essv13097242, essv13096845, essv13097465, essv13096901, essv13096960, essv13097254, essv13096854, essv13096972, essv13097370, essv13097078, essv13097113, essv13097274, essv13097144, essv13096974, essv13097400, essv13097401, essv13096792, essv13097398, essv13097061, essv13097269, essv13097396, essv13097331, essv13097209, essv13097433, essv13096981, essv13097248, essv13096852, essv13096800, essv13097470, essv13096784, essv13097230, essv13097125, essv13097353, essv13097266, essv13097033, essv13097267, essv13097359, essv13096809, essv13097044, essv13096943, essv13097041, essv13097035, essv13097076, essv13096951, essv13096855, essv13097155, essv13097105, essv13097424, essv13097129, essv13097364, essv13096993, essv13096915, essv13097448, essv13096948, essv13097202, essv13097164, essv13096971, essv13097064, essv13097073, essv13097422, essv13097038, essv13097246, essv13096893, essv13097327, essv13096888, essv13097283, essv13097131, essv13097204, essv13097231, essv13097247, essv13096900, essv13096861, essv13097440, essv13097338, essv13097304, essv13097318, essv13097008, essv13096986, essv13097335, essv13097165, essv13096923, essv13097352, essv13097415, essv13097072, essv13096912, essv13096934, essv13096976, essv13096833, essv13097438, essv13097109, essv13097390, essv13096927, essv13097482, essv13097081, essv13096882, essv13097090, essv13096973, essv13097141, essv13097382, essv13097161, essv13097094, essv13096851, essv13097287, essv13097056, essv13097027, essv13097023, essv13097378, essv13096957, essv13096808, essv13097249, essv13097495, essv13096844, essv13097263, essv13097054, essv13097098, essv13096995, essv13096853, essv13097380, essv13096872, essv13097490, essv13097483, essv13096782, essv13097268, essv13096932, essv13097184, essv13096862, essv13097066, essv13097020, essv13097185, essv13097174, essv13097446, essv13096802, essv13097321, essv13097443, essv13097191, essv13096989, essv13096897, essv13097221, essv13097337, essv13097356, essv13097290, essv13097210, essv13096813, essv13097385, essv13096811, essv13097463, essv13096884, essv13097291, essv13097323, essv13097043, essv13097466, essv13097181, essv13097421, essv13096988, essv13097138, essv13097444, essv13097004, essv13096953, essv13097282, essv13096985, essv13097067, essv13097107, essv13097213, essv13096877, essv13097333, essv13097237, essv13097419, essv13096978, essv13096866, essv13097336, essv13096929, essv13097367, essv13097368, essv13097369, essv13097309, essv13096919, essv13097122, essv13096992, essv13096785, essv13097492, essv13097449, essv13097128, essv13097279, essv13096924, essv13096920, essv13097108, essv13096834, essv13097214, essv13096842, essv13097430, essv13096947, essv13097363, essv13097311, essv13097124, essv13097055, essv13097272, essv13097187, essv13097256, essv13097302, essv13097238, essv13097111, essv13097491, essv13097393, essv13097117, essv13097215, essv13097022, essv13097051, essv13097407, essv13097293, essv13097048, essv13096998, essv13096982, essv13097280, essv13097087, essv13096905, essv13097049, essv13097277, essv13097089, essv13096903, essv13097016, essv13097452, essv13096839, essv13097116, essv13097102, essv13096780, essv13097060, essv13097342, essv13096967, essv13097059, essv13097039, essv13097192, essv13097405, essv13097262, essv13096949, essv13096873, essv13096804, essv13097080, essv13096933, essv13097358, essv13097473, essv13097234, essv13097429, essv13097371, essv13097201, essv13097169, essv13097163, essv13097068, essv13096931, essv13097297, essv13097158, essv13096958, essv13096867, essv13096984, essv13097152, essv13097334, essv13096994, essv13096925, essv13096886, essv13097300, essv13096841, essv13097140, essv13096910, essv13097142, essv13096928, essv13097257, essv13097196, essv13097411, essv13097486, essv13097286, essv13096908, essv13097079, essv13097036, essv13096916, essv13097464, essv13097458, essv13096968, essv13096822, essv13097427, essv13097110, essv13097162, essv13096830, essv13096979, essv13097372, essv13096896, essv13096961, essv13097188, essv13097127, essv13097455, essv13097294, essv13096829, essv13096937, essv13096895, essv13097130, essv13097151, essv13096955, essv13097434, essv13096891, essv13097017, essv13097218, essv13097284, essv13097216, essv13097171, essv13096806, essv13097345, essv13097088, essv13097468, essv13096899, essv13097170, essv13096977, essv13096858, essv13096816, essv13097474, essv13096876, essv13097454, essv13097195, essv13097101, essv13096952, essv13097273, essv13097203, essv13097428, essv13096849, essv13096828, essv13097425, essv13097276, essv13097120, essv13097347, essv13097251, essv13097315, essv13097394, essv13097199, essv13096880, essv13097271, essv13097053, essv13097134, essv13097015, essv13096850, essv13097496, essv13097296, essv13096793, essv13097460, essv13097461, essv13097154, essv13097399, essv13097146, essv13097487, essv13096904, essv13097265, essv13097000, essv13096798, essv13097126, essv13097417, essv13097346, essv13096796, essv13097477, essv13097042, essv13097245, essv13097143, essv13097441, essv13097014, essv13097319, essv13096969, essv13097019, essv13097153, essv13097366, essv13097450, essv13097289, essv13097478, essv13097471, essv13097343, essv13097292, essv13097431, essv13097395, essv13097176, essv13097118, essv13097032
SamplesHG03593, HG01918, HG00608, NA18621, HG03228, NA18947, HG01443, NA19399, HG01031, HG03175, NA19378, NA11931, HG02231, NA18979, HG02798, HG00233, NA20512, HG03941, HG02017, NA18504, HG03295, NA21128, HG03372, NA19920, NA19067, HG01873, HG00138, HG03770, HG02069, NA20798, HG01177, HG02756, NA18993, NA18558, HG03673, HG00129, HG03913, NA18618, NA18574, HG03663, HG02299, NA11918, HG04070, NA19384, NA20291, HG03917, NA18949, HG00158, HG02131, HG04033, HG02561, HG00335, NA19238, HG01849, HG02082, NA19172, HG01973, HG02178, HG01950, NA21129, HG00326, NA20757, HG03649, HG03585, HG02409, NA20755, NA19921, HG01851, HG02134, HG01164, NA18605, NA12760, HG01847, NA18538, HG03132, HG04039, HG02142, HG02380, HG03786, HG00657, NA19184, NA19717, HG01845, NA20832, NA18981, NA18548, HG03823, NA18907, HG01102, NA18879, NA19084, HG00690, HG03951, NA19750, NA19059, HG04063, HG03451, NA19682, HG03006, HG02286, NA18523, HG00463, NA19395, NA19625, HG02675, HG00376, HG01896, HG03743, HG01858, NA19729, HG00611, NA18533, HG04216, HG01597, NA19256, NA21144, NA19712, NA18564, HG03875, HG02308, HG02391, NA20520, HG01174, NA18865, HG03869, NA21095, HG02464, HG01798, NA18943, NA12763, HG02188, HG03103, NA20888, HG01861, NA20897, NA19328, HG02379, HG02128, HG01577, NA19785, HG02401, HG01935, NA19351, HG03849, HG02116, HG01799, NA18873, HG01631, HG00112, NA18876, HG02291, HG02348, HG01920, HG01756, HG00628, NA18624, NA20827, HG03985, HG03815, HG02643, HG02406, NA19429, HG00581, NA18577, HG03271, NA18998, HG03812, NA20874, HG01060, HG01413, HG03559, HG01441, NA19648, HG01795, HG01054, NA19055, NA19794, NA19397, HG02272, HG03965, HG03731, HG01961, HG01348, HG01079, HG02648, HG02262, HG02035, HG01586, NA18507, HG02150, NA18599, HG03015, HG02275, NA20813, NA18641, NA18603, HG02277, NA12004, HG03772, NA18625, NA20507, NA19669, NA19190, NA19098, HG02285, HG01809, NA18962, HG01924, NA19068, HG01250, NA19746, HG01341, NA19076, HG02312, HG00109, HG03099, HG02151, HG03640, NA18489, NA19728, HG02325, NA18635, HG00458, HG02549, HG01945, HG00634, NA19131, HG01816, HG00610, HG03246, HG01354, NA12287, HG03479, HG01110, HG03594, HG00590, NA19038, HG03830, HG03209, HG01893, HG02703, HG00120, HG02395, HG03986, HG02003, HG02224, NA19719, HG03746, HG01046, NA19075, NA18617, HG03995, HG00182, HG02138, NA18520, NA20764, HG03583, NA18908, HG03369, HG00464, HG01603, HG02402, HG00188, HG03120, HG02166, NA19247, NA18613, HG02136, HG00982, HG04225, HG03787, NA12342, NA19077, NA19462, HG01344, HG02511, NA19391, NA19327, HG02076, HG01938, HG01810, HG00584, NA19788, HG03756, NA20770, HG02789, HG02555, HG01777, HG03824, HG02008, NA18946, NA19001, HG01842, NA20282, HG01705, NA20828, NA19756, NA18536, HG02586, NA20542, HG02408, HG01990, NA18646, HG01700, HG03567, HG02255, NA19401, HG02282, HG04134, NA19108, NA18543, HG01954, NA18559, NA18950, NA19732, HG01362, HG00136, HG03689, HG01951, HG00607, HG03012, NA19786, NA18591, HG00319, HG03419, HG04003, HG02181, HG01801, NA19818, NA19759, NA19376, NA19078, HG03432, HG00672, HG01917, HG03646, HG01028, HG02396, NA12830, HG03998, HG02676, HG02410, NA18972, HG00343, HG01883, HG00372, HG01377, HG03611, HG01863, HG00345, HG03890, HG02808, HG02629, HG01097, NA18549, HG01976, HG02386, NA12383, HG02574, HG02658, HG01173, HG04096, HG03484, HG03121, HG02072, HG02481, NA19909, HG00102, NA20766, HG01624, NA19066, NA18508, HG02375, HG02026, NA20514, HG02784, HG02122, HG02727, HG00457, HG03229, NA18959, HG00115, HG01947, HG00449, NA20517, HG02384, HG00654, NA19443, NA20356, NA18602, HG00271, HG00663, NA18563, HG03133, NA18940, NA19319, HG02185, HG03943, HG03754, HG03452, HG03808, HG00674, HG02146, HG01968, HG02266, NA19062, HG02301, NA19457, NA18571, NA21108, HG03224, NA19904, HG02278, NA11930, NA19041, HG01069, HG00867, HG00325, NA19235, NA19207, NA18966, HG02190, NA20889, NA18990, HG01844, NA18557, HG02260, NA20127, HG00743, HG01124, NA18645, HG03343, HG00154, NA18747, NA19091, HG01435, NA19006, HG02075, HG01669, NA18933, HG04195, NA20314, HG02775, HG00556, HG02887, HG01768, HG00583, HG00263, HG01941, NA18579, HG03575, HG01323, HG01889, HG04235, HG03967, HG00284, NA18573, NA11919, HG01536, HG02577, HG02657, NA20856, HG02259, HG03643, NA19752, NA18553, NA19099, NA19761, HG03046, NA18963, HG00704, HG00246, HG02594, HG01572, NA18858, NA19012, NA18974, NA12043, HG01148, NA19003, HG01812, NA20872, HG04006, NA19147, HG01980, HG02010, NA19747, NA19019, HG01878, NA12272, HG01685, HG00734, HG01939, HG02611, HG01357, NA20530, NA20527, HG02982, NA20792, HG02179, HG00237, NA19679, HG04099, HG02941, HG02274, NA18610, HG02371, HG04080, HG01086, NA20847, HG02147, HG01868, HG02235, HG00342, NA19716, HG02107, HG03063, NA20289, NA19185, NA11843, NA19080, NA19780, HG03077, HG01431, HG02855, HG01111, NA19312, HG02805, NA20585, NA19063, NA12154, HG01927, NA19346, NA21120, NA18620, NA18997, HG03741, HG03514, HG00881, HG03096, HG03800, HG03857, HG02250, HG01438, HG02298, HG00187, NA20274, HG03767, HG01280, NA21092, HG01970, NA19020, NA18917, HG00318, NA19795, HG03130, HG03668, HG01971, HG03667, HG02271, HG00879, NA18870, HG03680, NA20846, HG03095, HG01571, NA19792, HG03464, NA19005, NA18944, HG02153, HG01070, HG01682, NA19762, HG01853, NA19448, HG02491, HG01997, NA20586, HG03873, NA12348, HG00851, NA18642, NA19771, NA19088, NA21103, HG01982, HG01393, HG02922, HG03803, HG04214, NA18970, NA19383, HG03968, NA18977, NA19917, HG01369, NA19317, NA18986, NA20869, HG00309, HG01932, NA19901, HG02502, HG03225, HG02104, HG02073, HG03058, HG03114, NA18954, HG03270, HG00739, HG01312, HG01942, NA18614, NA11831, HG02737, HG01183, HG01139, NA18544, HG02265, HG01248, HG01841, HG01187, HG02233, HG00596, HG00145, HG02513, HG00328, HG02152, HG02025, HG01864, HG01271, HG00653, HG03547, HG00701, NA20895, HG03428, HG00533, HG02390, HG00598, NA20506, NA19658, HG02968, HG02102, HG01808, HG03124, HG02757, HG00708, NA18757, HG01092, HG01311, NA19774, NA19449, HG04054, NA12249, HG02649, HG01791, HG02086, NA19740, HG03745, HG03634, HG02292, NA19338, HG04152, HG02585, HG01286, HG01596, NA19436, HG01992, HG02455, NA20773, NA20522, HG04188, NA18909, HG01190, NA19321, NA19735, HG02049, HG01958, HG00623, NA19773, HG01977, HG03850, HG01494, HG01974, NA20516, NA19741, HG02139, NA21126, NA19085, HG03108, HG00269, HG02398, HG01395, HG03565, HG00371, HG01770, HG00421, HG03863, HG02053, NA18994, HG02392, HG01254, HG01055, HG03022, HG01089, HG00186, HG01817, HG00131, NA20886, NA18488, HG04056, HG01566, HG02284, HG01869, HG02006, HG01923, NA18562, NA18965, HG01926
Known GenesTNKS
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3616192
Frequency
Sample Size2504
Observed Gain0
Observed Loss721
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer