A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647905



Internal ID6687958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:44739396..44741742hg38UCSC Ensembl
Innerchr22:44739396..44741742hg38UCSC Ensembl
Outerchr22:44738992..44742073hg38UCSC Ensembl
chr22:45135276..45137622hg19UCSC Ensembl
Innerchr22:45135276..45137622hg19UCSC Ensembl
Outerchr22:45134872..45137953hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg382347
hg192347
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16438028, essv16438427, essv16438146, essv16438304, essv16437971, essv16437829, essv16437851, essv16438502, essv16438391, essv16437841, essv16438333, essv16438009, essv16438260, essv16438526, essv16438439, essv16438428, essv16437766, essv16438107, essv16438466, essv16437810, essv16437759, essv16437979, essv16438174, essv16438320, essv16438082, essv16438461, essv16438393, essv16437791, essv16438132, essv16438255, essv16438459, essv16437997, essv16437821, essv16437812, essv16438337, essv16438494, essv16438081, essv16438020, essv16437950, essv16438305, essv16438152, essv16438209, essv16437891, essv16438105, essv16438300, essv16437946, essv16438458, essv16438409, essv16437912, essv16438210, essv16437758, essv16438328, essv16437903, essv16437828, essv16437986, essv16438265, essv16438076, essv16438334, essv16437989, essv16437945, essv16438131, essv16438346, essv16438237, essv16437826, essv16438149, essv16438460, essv16438295, essv16438379, essv16438148, essv16438443, essv16438525, essv16438047, essv16438477, essv16437895, essv16438424, essv16438205, essv16438247, essv16438426, essv16437774, essv16438476, essv16438264, essv16438485, essv16438384, essv16437771, essv16437832, essv16438184, essv16437890, essv16437983, essv16438153, essv16437849, essv16437830, essv16438090, essv16438178, essv16438123, essv16437906, essv16438401, essv16438194, essv16438215, essv16438404, essv16437803, essv16438536, essv16437861, essv16438120, essv16438364, essv16438109, essv16438021, essv16437779, essv16438161, essv16437881, essv16438475, essv16437866, essv16437772, essv16438217, essv16437955, essv16438533, essv16438198, essv16438115, essv16438505, essv16438013, essv16437981, essv16437901, essv16437813, essv16438056, essv16438326, essv16438508, essv16438486, essv16438207, essv16438437, essv16438352, essv16438058, essv16437850, essv16437794, essv16438367, essv16438343, essv16438507, essv16437790, essv16438327, essv16438162, essv16437898, essv16438374, essv16438310, essv16437918, essv16438319, essv16438138, essv16438085, essv16438347, essv16437914, essv16437822, essv16438329, essv16438513, essv16438195, essv16437869, essv16438223, essv16438463, essv16438035, essv16437786, essv16438324, essv16438050, essv16438053, essv16438371, essv16438395, essv16438523, essv16438498, essv16437755, essv16437785, essv16437761, essv16437952, essv16438414, essv16438397, essv16438421, essv16438350, essv16437968, essv16438030, essv16437927, essv16438490, essv16437913, essv16438186, essv16438214, essv16438180, essv16438158, essv16438256, essv16438411, essv16438155, essv16437853, essv16438332, essv16437782, essv16438465, essv16438472, essv16438234, essv16438078, essv16437902, essv16438226, essv16438222, essv16438062, essv16438142, essv16438268, essv16438362, essv16438473, essv16438077, essv16437872, essv16438034, essv16437760, essv16438211, essv16438399, essv16438014, essv16438325, essv16437838, essv16437827, essv16437833, essv16437884, essv16438377, essv16437905, essv16437823, essv16437802, essv16438092, essv16438204, essv16438113, essv16437873, essv16438219, essv16438140, essv16438398, essv16438173, essv16437924, essv16438487, essv16438248, essv16438440, essv16437899, essv16438402, essv16437978, essv16438532, essv16438048, essv16438017, essv16437936, essv16438125, essv16438403, essv16437998, essv16438433, essv16438480, essv16438042, essv16437896, essv16438080, essv16438415, essv16438213, essv16438272, essv16438246, essv16438212, essv16438406, essv16438126, essv16438497, essv16437984, essv16438483, essv16438434, essv16437980, essv16438002, essv16437964, essv16438196, essv16438282, essv16438086, essv16438177, essv16438095, essv16437944, essv16438388, essv16438073, essv16438311, essv16437934, essv16437967, essv16437876, essv16437972, essv16438307, essv16438287, essv16437797, essv16437769, essv16437846, essv16437882, essv16438192, essv16437885, essv16438331, essv16438099, essv16437858, essv16438127, essv16438376, essv16438381, essv16438029, essv16438354, essv16438317, essv16438281, essv16437870, essv16438181, essv16438378, essv16438033, essv16438118, essv16437893, essv16438065, essv16438010, essv16438467, essv16438183, essv16437933, essv16438425, essv16437825, essv16438018, essv16437953, essv16438471, essv16438394, essv16438289, essv16437863, essv16437961, essv16438253, essv16438479, essv16437808, essv16438353, essv16438452, essv16438296, essv16438500, essv16438370, essv16437796, essv16438468, essv16438208, essv16437778, essv16437780, essv16438489, essv16438224, essv16437994, essv16437762, essv16438387, essv16438469, essv16438349, essv16437839, essv16438089, essv16438499, essv16437923, essv16437973, essv16437775, essv16438251, essv16438150, essv16438079, essv16438284, essv16438232, essv16438103, essv16438456, essv16438273, essv16437942, essv16437929, essv16438225, essv16438049, essv16438464, essv16437874, essv16438102, essv16438435, essv16437956, essv16438097, essv16438274, essv16437959, essv16438172, essv16437824, essv16438277, essv16438254, essv16437962, essv16438408, essv16438259, essv16438133, essv16438386, essv16438233, essv16438318, essv16438190, essv16438292, essv16438293, essv16438301, essv16438450, essv16438135, essv16438189, essv16438438, essv16438429, essv16438168, essv16438519, essv16438230, essv16438442, essv16437837, essv16437798, essv16438338, essv16437935, essv16438527, essv16438279, essv16438482, essv16438430, essv16437877, essv16438306, essv16438336, essv16437975, essv16438297, essv16438266, essv16437816, essv16438163, essv16438493, essv16438063, essv16438271, essv16437987, essv16438241, essv16437991, essv16437840, essv16438252, essv16438522, essv16438070, essv16437995, essv16437910, essv16438417, essv16438193, essv16438303, essv16438016, essv16438366, essv16437958, essv16438227, essv16438488, essv16438512, essv16437871, essv16437880, essv16438091, essv16438083, essv16438392, essv16438348, essv16438069, essv16437908, essv16437784, essv16437886, essv16438245, essv16438001, essv16437799, essv16437763, essv16438108, essv16438201, essv16438298, essv16438361, essv16438447, essv16438229, essv16438112, essv16438130, essv16437938, essv16437783, essv16438269, essv16438074, essv16438151, essv16438036, essv16437925, essv16438517, essv16438043, essv16437940, essv16438147, essv16437960, essv16438098, essv16438422, essv16438231, essv16437792, essv16438249, essv16437954, essv16438169, essv16437887, essv16438423, essv16437930, essv16438516, essv16437867, essv16438093, essv16438283, essv16437878, essv16438238, essv16438228, essv16438250, essv16437859, essv16438061, essv16438316, essv16437814, essv16438321, essv16438511, essv16438313, essv16438170, essv16438004, essv16438218, essv16438104, essv16438067, essv16437900, essv16438101, essv16438462, essv16438003, essv16438197, essv16438051, essv16438005, essv16438416, essv16438365, essv16438141, essv16438216, essv16437897, essv16438124, essv16438055, essv16438529, essv16437894, essv16438008, essv16438032, essv16437767, essv16437977, essv16438071, essv16438117, essv16438156, essv16438139, essv16438100, essv16438382, essv16437789, essv16438024, essv16437892, essv16438244, essv16438383, essv16437847, essv16438359, essv16437928, essv16437787, essv16437842, essv16437993, essv16438454, essv16437819, essv16438441, essv16438357, essv16438491, essv16438154, essv16438322, essv16438039, essv16438145, essv16437966, essv16437931, essv16437965, essv16437773, essv16438342, essv16438167, essv16437920, essv16438263, essv16438514, essv16438449, essv16437845, essv16438389, essv16438187, essv16438412, essv16438474, essv16438413, essv16438159, essv16438199, essv16437835, essv16437915, essv16437801, essv16437805, essv16437982, essv16437834, essv16437951, essv16438220, essv16438175, essv16437926, essv16438290, essv16437917, essv16438128, essv16438534, essv16437860, essv16438176, essv16438419, essv16438335, essv16437883, essv16438257, essv16438045, essv16438188, essv16437943, essv16437948, essv16437793, essv16438267, essv16437974, essv16437932, essv16438358, essv16438007, essv16438046, essv16438330, essv16438355, essv16437996, essv16438182, essv16438052, essv16438495, essv16438436, essv16437957, essv16438446, essv16438503, essv16438420, essv16438221, essv16438165, essv16438492, essv16438510, essv16438015, essv16437857, essv16437836, essv16438119, essv16438094, essv16437800, essv16438294, essv16437820, essv16437921, essv16438431, essv16437756, essv16438164, essv16438075, essv16437922, essv16438276, essv16438520, essv16438019, essv16437976, essv16437904, essv16438096, essv16437831, essv16438022, essv16437855, essv16438509, essv16438457, essv16438531, essv16438451, essv16438044, essv16438506, essv16438356, essv16437795, essv16438206, essv16438368, essv16438110, essv16437765, essv16438280, essv16437806, essv16438521, essv16437949, essv16438315, essv16437757, essv16437889, essv16438202, essv16438478, essv16438137, essv16437862, essv16438040, essv16438261, essv16438068, essv16438339, essv16438023, essv16438185, essv16438396, essv16438084, essv16438369, essv16438470, essv16437856, essv16438171, essv16437815, essv16437875, essv16437811, essv16437990, essv16438504, essv16438041, essv16437941, essv16438288, essv16438341, essv16437988, essv16438481, essv16438515, essv16437939, essv16437947, essv16437969, essv16438455, essv16438345, essv16437864, essv16437807, essv16438243, essv16438444, essv16438453, essv16437804, essv16437865, essv16438027, essv16438088, essv16438111, essv16437992, essv16438179, essv16438340, essv16438375, essv16437848, essv16438116, essv16438360, essv16437776, essv16438157, essv16438445, essv16437844, essv16438006, essv16438072, essv16438066, essv16437888, essv16438518, essv16437909, essv16438432, essv16438275, essv16437781, essv16438200, essv16438258, essv16438530, essv16438270, essv16438299, essv16438239, essv16438373, essv16437919, essv16438114, essv16438060, essv16438380, essv16438160, essv16438012, essv16438166, essv16438203, essv16438291, essv16437817, essv16438144, essv16438363, essv16438302, essv16437768, essv16438535, essv16438351, essv16438122, essv16438309, essv16437879, essv16438031, essv16438314, essv16437907, essv16438286, essv16438285, essv16438054, essv16437868, essv16438057, essv16438372, essv16438400, essv16438390, essv16438000, essv16438262, essv16438064, essv16437911, essv16438278, essv16438484, essv16438501, essv16438134, essv16438496, essv16437764, essv16438418, essv16438323, essv16438235, essv16437985, essv16438121, essv16438236, essv16438191, essv16438026, essv16438136, essv16438524, essv16437937, essv16437777, essv16438059, essv16438407, essv16438344, essv16437963, essv16437809, essv16438242, essv16438143, essv16438037, essv16438240, essv16438129, essv16438106, essv16437916, essv16438308, essv16438025, essv16438410, essv16438312, essv16437970, essv16438011, essv16438385, essv16437770, essv16437854, essv16437788, essv16437843, essv16438448, essv16438038, essv16438405, essv16437818, essv16438528, essv16438087, essv16437999, essv16437852
SamplesNA20588, NA20339, NA19028, HG01850, NA19058, HG01918, HG01965, NA18947, NA18647, HG01885, HG03175, HG03517, NA11920, HG03241, NA18979, HG03449, HG02419, HG02798, HG03521, HG03455, HG02017, NA18504, HG03295, NA19684, HG02215, HG03193, HG01518, NA21128, HG03069, NA20359, HG02769, NA19067, NA12813, NA19446, NA19171, NA19089, HG03645, HG03770, NA19315, NA20589, NA18995, HG02140, NA20320, NA19678, HG02595, NA20911, NA20795, HG02756, NA18558, NA18582, HG01083, HG01063, NA19384, HG00537, NA20291, NA19079, HG02131, HG02562, HG03520, NA18868, HG02634, HG03212, NA19238, HG03045, NA19024, HG01849, NA19172, HG01973, HG02588, HG02178, NA20412, HG03380, HG03073, NA19025, NA18867, HG01967, HG01550, NA19789, HG01851, HG02879, HG02943, HG03697, NA18605, NA18538, HG03132, HG03061, HG01200, HG03088, NA19175, HG02380, HG01095, HG01879, NA19663, HG01845, NA19081, HG03771, HG01498, HG02728, HG03159, HG02014, HG03781, HG02878, NA18537, NA18879, NA19084, HG03951, HG02445, HG03446, NA18532, HG03024, NA19009, NA19452, NA19682, HG02286, NA18523, HG00463, NA19318, HG02332, HG01936, NA18531, HG02635, HG02896, HG01107, HG02675, HG04200, HG01896, HG02772, HG01858, NA19729, HG03848, HG02667, HG02557, NA19712, NA19434, HG03539, HG02546, NA18628, NA19454, HG00580, HG03117, NA20520, NA19010, NA18865, HG03473, HG01798, NA19083, HG02580, HG02137, NA18615, HG02188, HG00614, HG02700, HG02971, HG03157, NA19223, NA19779, HG03849, HG03313, HG03279, HG02116, HG03351, HG02768, NA19102, NA18873, HG04098, HG01269, HG02013, NA18876, HG02182, HG03401, HG01914, HG00274, HG00595, HG02947, HG02353, HG01920, NA18989, NA19065, HG02643, HG01437, HG01618, HG03265, HG03271, HG02760, HG00626, NA18998, HG02614, HG02339, HG01413, NA19700, HG00592, HG01054, NA19055, NA19794, NA19397, NA18924, HG02272, HG01303, HG03731, HG01961, NA18592, HG01359, HG02973, HG02702, HG03057, HG02852, HG02061, NA18877, HG03558, NA20321, NA19092, HG03280, HG02476, NA19819, NA12004, HG04164, NA20346, HG03577, HG03172, NA19190, NA19098, HG01924, NA19068, NA19746, NA19076, HG03099, HG02151, HG03640, NA18489, NA19728, HG03499, HG02325, NA18635, HG02620, NA19916, HG01599, HG02854, HG03246, HG03105, NA19023, HG03911, NA18498, HG01848, HG03762, HG00590, NA19038, HG03830, NA19922, HG03868, HG03209, HG01893, HG03460, HG02315, HG00683, HG00236, HG01527, HG01046, NA19075, NA18617, HG03777, HG02471, NA12889, HG02420, NA19159, HG03352, HG00182, NA19189, NA18520, HG02946, HG00637, NA20764, NA19209, HG03055, HG03583, HG03369, HG00464, HG03169, HG02402, HG03120, HG00560, HG02570, NA19247, NA18613, HG02136, HG01360, NA20858, HG03644, HG02334, NA19077, HG02582, NA19347, HG01344, NA18991, HG01938, HG00475, HG02554, NA19788, NA18910, HG01880, NA18976, HG02497, HG02555, HG03123, HG01392, HG03563, HG01161, NA19000, HG02817, HG03202, HG01197, NA18499, HG03397, HG03078, HG02604, HG02008, NA19031, HG01241, HG01921, HG03571, HG03854, NA19225, NA19756, NA19160, NA18536, HG02586, NA21142, NA18646, HG03567, HG01363, NA19401, HG02613, HG03028, NA18535, NA19834, HG03461, HG02759, HG02501, NA19749, HG00742, HG00565, NA18950, HG02983, NA19732, HG02837, NA20351, HG03433, HG03127, HG01951, HG03012, NA19310, NA18591, HG01108, NA20803, HG03419, HG02814, HG03681, HG01991, NA21125, NA19759, NA19078, HG03039, HG01432, NA19248, HG01917, NA19472, HG02646, HG02938, NA19713, NA12830, HG03258, HG02410, NA18972, HG01883, HG03445, HG01617, HG00472, HG02861, HG01464, NA18505, HG03890, HG00759, HG02808, NA18549, HG02343, HG00437, HG01976, HG01747, NA18745, HG00542, HG02944, HG01173, HG03484, HG02628, NA19703, HG03121, HG02072, HG03378, HG02481, NA19909, HG02002, HG00671, NA19066, HG03052, NA18861, HG00559, NA18565, HG03111, HG03753, NA20878, HG02029, HG03300, HG01066, HG02078, HG03115, HG02012, HG00181, HG02804, HG03298, NA20294, HG03126, HG00449, HG02536, HG01051, NA20356, HG03478, NA18627, NA19107, HG03572, HG00641, HG03436, HG02621, HG03943, HG03808, HG02952, HG03091, HG02383, HG01168, NA18923, NA18567, HG02266, HG03604, HG02860, NA19062, HG02054, HG03224, HG01372, HG00451, NA19904, HG02816, NA19130, HG02981, HG02278, NA20539, HG02143, NA19041, HG01069, HG00867, NA20518, NA19235, HG02260, NA20355, NA20342, NA20127, HG02477, HG04075, NA20318, NA20753, HG01256, HG01124, HG02716, NA18747, NA19091, HG03363, NA19006, HG02345, NA18933, HG02057, HG00732, HG01882, HG01979, NA20314, HG00556, HG00263, HG01941, HG01077, NA18871, HG02508, HG01889, NA19654, NA19461, HG02577, HG03388, NA18912, HG02259, HG02881, HG01101, NA19099, HG02783, NA19761, HG03046, HG00704, NA18858, HG02568, HG01956, NA18541, NA19012, HG02722, HG03064, HG03238, NA19375, HG02330, NA19309, NA19390, HG04006, NA19149, HG03437, HG01980, NA20276, NA19747, NA19019, HG01678, HG04186, NA12272, HG03692, HG01551, HG00734, NA19090, HG01939, HG02611, HG00473, HG03469, HG02941, HG02274, NA19324, HG03304, NA19783, NA18610, HG00620, HG02371, HG01086, HG03112, HG02095, HG03097, HG01868, NA19468, HG02107, HG03063, HG03060, NA19185, NA19116, NA19080, NA19711, HG03077, HG00728, NA18983, NA19030, NA18957, HG02855, NA11892, HG02020, HG02805, NA19463, NA18623, HG04061, HG03955, HG01927, HG01516, HG03514, HG02890, NA19141, HG02583, HG01438, HG03548, HG03163, NA19914, HG01860, NA19332, NA20274, HG03767, HG04211, HG02337, HG02318, HG01970, NA20532, NA19020, HG04002, HG02891, HG03130, NA18486, HG01465, NA18545, HG03190, NA19777, NA18596, HG00566, HG03895, HG03518, HG03297, HG02271, HG03139, HG02023, HG01694, HG03074, HG03235, HG03082, HG01571, HG02153, NA19201, HG01953, HG03135, NA19762, HG02491, HG01997, NA19119, NA19198, NA20317, NA18619, HG03485, HG03370, NA19771, NA21103, HG02111, HG01242, HG03079, HG02489, HG02505, HG02281, NA19404, HG03189, HG03968, HG03268, HG02067, HG01495, HG01072, NA19731, HG01369, HG03195, NA19317, NA20869, HG04185, HG03225, HG02104, HG02073, HG00159, NA18864, HG03267, HG03058, NA19456, NA18975, NA18640, HG03114, NA19200, HG03270, HG01312, HG01942, NA18614, HG02977, NA19437, HG01187, NA18934, HG02513, HG01247, HG02152, NA19152, HG01864, HG00653, HG02397, HG01162, HG04107, HG03291, NA19913, NA19236, HG02322, NA18516, NA18915, HG03428, HG01989, NA18637, HG02102, HG02470, NA18630, HG02537, HG02221, HG03124, HG02757, HG01049, NA18757, HG01092, HG03311, NA18566, NA19114, NA20299, NA19449, HG03382, HG03136, HG03476, NA18856, NA19113, NA19320, NA19338, NA19257, HG02184, HG02585, HG01286, HG03354, NA18634, NA18945, HG02484, NA19035, HG01992, HG02813, HG02455, NA19206, NA18542, NA18909, HG03240, NA19321, NA18961, HG02799, NA19735, HG02049, NA19473, HG01894, HG01915, NA19037, NA18941, HG01958, HG02923, NA19773, NA19380, NA19144, NA18992, HG01494, HG01974, NA18643, NA19741, NA12874, NA21126, NA19085, HG03108, HG01862, NA19475, HG03084, HG03565, NA18971, HG02974, HG01491, NA21088, HG02970, HG01556, HG00421, HG02699, HG02654, NA20334, HG01254, HG02113, HG02679, NA19096, HG01872, NA19213, HG02052, HG02051, NA20886, HG01775, NA18488, HG03856, NA19758, HG03376, HG02465, HG02425, HG03072, NA20763, HG01566, NA18511, HG02284, NA18522, HG03118, HG03129, NA18622, HG02060, NA18965, HG03196
Known GenesPRR5-ARHGAP8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647905
Frequency
Sample Size2504
Observed Gain0
Observed Loss782
Observed Complex0
Frequencyn/a


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