A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv527e214



Internal ID22756421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:70147946..70162829hg38UCSC Ensembl
chr16:70181849..70196732hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg3814884
hg1914884
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3638947, esv3638949, esv3638946, esv3638948
SamplesHG03686, NA18562, HG01608, NA20588, NA18502, HG01485, NA20339, NA19028, HG00442, HG02496, NA20529, NA21111, HG01965, HG00608, NA18621, HG00142, HG01443, HG00384, HG01885, NA19399, HG01031, NA12414, HG03517, NA12843, NA11920, HG01326, HG02231, HG00257, HG02419, HG02798, HG00233, NA20512, NA18528, HG03941, HG02600, HG03521, HG03455, HG01486, NA18878, NA18504, NA19684, NA18530, HG03515, HG02215, HG03193, HG01461, HG02769, NA20806, HG04059, HG01873, NA19089, HG03645, HG01506, HG01325, HG00356, HG00589, HG02690, HG03722, NA20589, NA21130, HG01766, NA20756, HG03673, HG00129, HG01492, NA07048, HG03874, NA11918, NA18582, HG03234, NA20768, NA12762, HG01063, HG00355, HG01365, HG03040, HG00537, HG00311, NA20291, HG01859, HG00158, HG02562, HG00281, HG00130, HG04183, HG03817, NA19720, HG03520, HG02561, HG00335, HG02597, HG02389, HG01849, NA18985, HG01771, NA20757, HG01550, HG02479, HG01565, HG01164, HG03697, NA20892, NA12760, HG00731, NA20800, HG03132, HG03061, HG03511, HG03088, HG02142, HG03786, HG01684, NA19184, NA20810, HG03928, HG01879, NA19043, NA19663, HG02731, HG03711, HG03491, HG03771, HG02728, NA20875, HG03159, HG02014, NA18572, NA12234, HG01630, NA19064, HG03823, NA18537, HG01047, HG01102, HG03829, NA20903, HG01762, HG02445, NA11893, HG00331, NA11840, NA19750, HG01130, HG03024, HG04063, HG02724, HG01334, NA19009, HG00099, NA12778, HG02635, HG01697, HG02896, HG01988, HG04093, HG01896, HG01811, HG01257, HG00611, HG00382, NA19652, HG02557, HG01597, HG00336, NA18517, NA21144, NA19712, NA19434, HG03539, HG03708, HG02308, HG02088, NA19454, HG03949, HG00580, HG01874, NA20520, NA19010, NA18865, NA21095, HG01620, HG03473, HG00116, NA19360, NA12347, HG02771, HG03729, HG01861, NA19117, HG03600, HG02700, HG01765, HG02971, NA18631, HG03157, HG00381, HG02367, HG01804, NA19223, HG03849, HG00267, HG01799, NA18609, NA19102, HG01631, HG01269, NA19770, HG03470, HG03401, NA20503, HG02353, NA18989, HG01756, NA19129, HG00628, HG02851, NA20827, HG01509, NA19429, HG01437, HG01618, NA19431, NA18577, HG03265, HG03989, HG03864, HG00593, NA20762, HG03690, HG03812, HG01413, HG03559, NA19648, NA19700, HG00121, HG01054, NA19055, NA18924, HG01303, NA19466, NA11995, HG03960, HG01348, HG03821, HG01079, HG02648, NA18561, NA19704, NA18507, HG01188, NA11933, HG02150, NA18599, HG03015, HG02852, HG00306, NA12045, HG03558, HG02360, HG04094, NA19092, HG02476, HG00699, NA12004, NA21115, NA19098, HG04001, NA18962, NA12341, HG01924, HG01500, HG01503, NA12812, HG02151, HG02407, HG03499, NA20890, HG02087, HG00689, HG02541, HG02325, HG00173, NA19723, NA18635, HG03765, HG02687, HG01459, HG00330, NA20769, HG02549, HG01945, HG01843, HG01710, NA19649, HG03246, HG03105, HG02655, HG01354, NA12287, HG03629, HG04131, NA20513, NA19038, HG03793, NA19922, NA12761, HG03209, HG01893, NA12282, HG00277, HG03460, HG00120, HG02395, HG02315, HG00106, HG02224, HG01813, HG00262, NA20340, NA18560, HG01527, HG04106, HG02885, NA19075, NA19471, HG03777, NA12889, HG03995, NA19159, HG02138, NA18520, HG02946, HG00338, NA20764, HG03055, HG03583, HG00178, NA20587, NA18908, HG01605, NA18973, HG00530, NA18638, HG01699, HG01603, NA20818, NA19007, HG00543, HG00560, NA19247, HG00629, HG00176, HG00982, HG01797, HG03787, NA12342, HG04062, HG03644, HG02697, HG02582, HG02236, NA19347, NA12872, NA18991, HG02554, HG02450, NA19788, HG03756, HG02789, HG03123, HG03563, HG01161, HG01619, HG01414, HG00844, NA19655, NA20859, HG03202, HG02494, NA18499, HG01707, HG01504, NA19031, NA19001, HG03740, HG04189, NA18853, HG03571, NA20282, HG01708, HG01679, HG01403, NA20828, HG00141, NA19160, HG03991, NA21142, NA20542, HG03109, HG02399, HG00128, NA21143, NA20296, NA19401, HG04219, HG02282, HG00119, NA18535, NA19834, HG03461, HG02759, NA12775, HG02501, HG01800, HG00136, HG03689, NA07051, HG02314, HG01623, HG03127, HG01205, NA18629, NA19310, HG01260, HG00256, NA21094, HG03419, HG04003, HG03681, HG01991, NA20887, HG02181, NA21125, HG01801, NA19376, NA19323, HG01606, HG00707, HG00446, NA19438, HG03646, HG02238, NA20582, NA19472, HG02938, HG01783, HG01085, HG00174, NA21101, NA12830, NA19726, HG03538, HG01377, NA18984, NA19146, NA19004, HG01863, HG00345, HG02629, HG00437, NA20509, HG04210, NA20882, NA19701, HG00542, HG01412, HG01173, HG02628, NA12842, HG00143, NA19703, HG03121, HG02072, HG03378, HG02481, HG00102, NA20766, NA12286, HG01624, HG00671, NA21127, NA18861, NA12273, NA20783, HG02375, HG02026, HG04158, HG01815, NA20878, HG00315, NA20752, NA20802, HG00244, NA19350, HG01806, HG00181, HG03298, NA19355, NA20298, HG01802, HG03229, NA20517, HG02536, HG01051, HG00097, HG03999, NA18510, NA12399, HG01522, HG00693, HG03009, HG00271, NA18563, HG03436, NA18519, HG00272, NA19319, HG03168, NA18597, HG03754, HG01702, HG02105, HG01351, HG01277, NA19307, HG03091, HG02383, HG01168, NA18923, NA18567, HG03604, NA19062, HG04182, HG03342, HG01761, NA20822, NA19457, NA18571, HG03224, HG00334, NA20287, HG00451, NA19904, HG02816, HG02603, NA19130, NA19923, HG03887, HG03619, NA19041, NA12275, HG01080, NA12156, HG00325, HG00113, HG03888, HG03691, HG00534, HG01525, HG04020, HG03814, NA18990, HG01709, NA20342, HG02477, NA21105, HG04075, NA20753, HG01256, HG00743, HG02047, HG00349, HG03861, HG00268, HG03363, HG00380, NA18525, HG01670, NA19006, HG00332, HG01789, NA18933, HG02057, NA19984, HG00101, HG01882, HG00368, HG02775, HG02887, HG00275, NA18579, HG03575, NA18871, HG03805, HG00239, HG00740, NA19654, HG00324, HG03730, HG02429, HG00250, NA21124, HG02577, HG00479, HG00350, HG03802, HG00684, HG02309, NA20856, HG03643, HG01593, HG02881, HG01101, NA19752, NA18553, HG01497, HG03969, NA18555, HG00146, HG03672, HG03898, NA18858, NA12546, HG01075, NA19012, NA18974, NA19017, NA19375, NA19003, NA19309, HG00254, HG04227, NA19149, NA19147, HG00625, NA20276, NA19747, NA19019, HG01678, HG02220, NA20815, NA19072, HG04186, HG03692, HG01272, NA21123, NA20790, HG01375, HG03259, HG00473, HG03469, HG02179, NA19324, HG03870, NA20544, HG03727, HG01489, HG03779, HG02558, HG02371, HG04080, HG01086, NA18501, HG03112, NA21090, HG03977, HG03097, HG04014, NA19474, HG03063, HG03060, NA21133, NA20510, NA20289, NA19185, HG00310, HG00280, NA11843, NA20758, HG03925, HG02774, HG01479, NA19030, NA20502, NA19430, HG02855, NA19312, NA12890, HG02805, NA20585, NA12154, HG04061, HG03303, HG01805, HG01786, NA19214, HG00553, HG03166, HG00255, NA21091, NA18997, NA21110, NA19222, HG02610, NA21097, HG02652, HG02250, HG00536, HG01438, HG00361, HG03163, HG02298, HG00524, HG00351, HG03237, HG00187, NA19332, NA20274, HG02433, HG03767, HG03738, HG02318, HG03607, HG00367, NA19795, HG03668, HG01686, HG03190, HG03963, HG01456, HG01971, HG03518, HG03792, HG00177, NA19314, HG03680, NA20846, HG03199, NA18967, HG03074, NA19374, HG03082, NA19792, HG00127, NA20796, HG02153, NA19201, HG01682, HG04022, NA19762, HG01853, NA19448, HG03490, HG02485, HG01997, HG01488, HG03976, NA19119, NA19198, NA18619, HG03905, HG02130, NA11992, NA19771, HG00369, HG01510, NA19782, HG01982, HG01393, HG03079, HG02281, NA19404, HG03803, HG00379, NA20819, HG01628, HG02461, HG01369, HG03195, HG01673, HG01405, NA21107, HG01932, HG02502, HG03225, HG00159, NA19445, HG03048, NA18648, HG01312, HG03862, NA11831, HG01353, HG00133, HG01139, HG00290, NA18544, HG02977, NA19210, HG03908, HG01187, HG02233, NA18934, HG00328, NA20505, NA12003, NA19152, HG00653, NA18956, HG03547, HG01162, HG01515, NA18939, HG00436, HG00320, HG02390, HG01989, NA20506, HG04019, HG03919, HG01808, HG02537, HG00619, HG03124, HG00708, HG03742, HG01615, HG01073, NA19114, HG03136, HG00956, NA20538, HG02649, HG01791, HG00613, HG00157, NA19740, NA19320, HG04152, HG01890, NA18634, NA18945, NA19436, NA20765, NA18546, NA20821, NA18542, HG03833, HG03790, NA18909, HG01190, HG02799, HG02049, HG00366, NA19473, HG02696, HG02682, HG03899, NA20804, HG02651, NA20785, NA12046, HG00308, NA18992, HG03488, NA19467, NA18643, HG03846, NA20797, NA12874, HG04090, NA21126, HG01862, HG00269, HG03084, NA20357, HG02398, HG00111, HG00371, HG01770, HG02974, HG03896, HG02230, HG01556, HG00421, HG02699, HG02053, HG03022, HG02462, HG02113, HG03916, HG03684, HG00186, HG03894, NA19213, NA20528, HG03162, HG03882, HG01775, HG01378, NA18488, HG01082, NA19758, HG02425, NA20763, HG02284, HG01869, HG01672, NA18522, HG00180, NA18622, HG01695, NA12776, NA18965, HG03196, HG01986, HG00189, HG03593, HG01850, HG01402, NA19058, HG03228, HG04222, HG04060, HG03687, HG03175, NA19378, HG01602, NA21100, NA11931, HG03717, HG03241, HG02661, HG00151, NA18999, HG02836, HG04076, NA12751, HG03616, HG02624, HG03295, HG02382, NA19377, HG02040, NA20863, HG02688, HG02356, NA21128, HG03372, HG01704, HG03679, NA20359, NA20894, HG00337, NA12813, HG03837, HG03603, HG00138, NA19171, NA19379, HG03770, HG00122, NA19315, NA20798, HG02140, NA19678, HG01676, HG01167, HG02840, HG02595, NA20911, NA20795, HG02756, NA18993, NA18547, NA18960, NA18916, HG02645, HG01528, HG01083, NA19384, HG00243, NA19079, HG04033, HG00139, NA20759, HG03910, HG00632, HG01519, NA20812, NA18868, HG02634, NA19238, HG03045, NA19024, HG02082, HG03947, HG02178, NA20412, HG04047, HG03380, NA21129, NA19239, HG03073, NA19025, HG00326, HG00323, NA18867, HG01967, NA20515, NA19789, HG02879, NA12777, NA18605, NA20535, NA12489, NA18538, HG03685, HG01501, HG01122, HG03718, HG03907, HG04039, HG01857, NA19175, NA20521, HG00657, NA20760, HG02253, HG02144, HG01845, HG00344, NA19081, HG03900, HG01498, NA12718, NA20519, NA20832, NA18948, HG04177, HG03781, HG02878, HG00692, NA18548, NA18907, HG03301, NA18879, NA20901, NA19084, NA21086, HG00690, HG00404, HG03951, NA12829, HG04173, HG02121, HG01613, HG03446, NA06989, HG03451, HG02601, HG02666, NA19452, HG02256, HG03006, NA18523, HG03752, HG02332, NA19395, HG04118, HG00126, NA19625, NA18593, HG01625, HG01107, HG03694, HG02675, HG04200, HG03934, HG03743, HG03720, HG04025, HG03598, NA19440, HG03848, NA18533, HG04216, HG02667, NA19256, HG04026, NA18564, HG02355, HG02721, NA20870, HG03920, HG03458, HG03117, HG01174, HG03702, HG01866, HG03869, NA19428, NA18943, NA20281, NA12763, NA18615, HG02188, HG01342, HG03703, HG03103, NA20888, HG01785, NA20906, NA19328, HG02379, HG02128, HG01577, HG00513, HG02373, NA19785, HG02401, HG01935, HG01912, NA19779, HG03313, HG03351, NA18873, HG04098, HG00112, NA18876, NA20826, HG01794, HG00274, NA19121, HG00595, HG02351, HG03867, HG03198, HG03985, HG01776, NA11832, HG03271, HG02760, HG01507, HG00096, NA18998, HG02614, HG01060, HG00114, HG02339, HG00235, HG01441, NA20853, HG02272, HG03965, HG01961, NA18592, NA12814, HG01359, HG02973, NA20899, NA18980, HG01537, HG00100, HG01586, HG03057, NA18881, NA19734, HG03589, HG01389, NA20813, NA18641, HG02061, NA18877, HG01305, NA19819, NA18625, HG04164, NA20346, HG00341, HG00150, NA20507, NA19669, HG02734, HG03577, NA19190, NA12400, HG02285, HG03950, HG01250, HG01341, NA19076, NA18550, HG03086, HG00251, HG00109, HG03796, HG03640, NA20861, NA18489, HG03757, HG01064, NA20900, HG04144, NA19916, NA19131, HG01816, HG02374, NA19023, HG03479, NA19681, HG01110, HG03594, HG03868, HG01134, NA12005, HG02493, NA19651, HG02703, HG03556, HG01170, HG00236, NA20896, HG01757, HG01767, HG01046, NA18617, HG03624, HG02471, HG01176, HG02420, HG00182, HG03744, NA20884, HG00637, HG03750, NA12828, HG03369, HG00419, NA19451, NA21122, NA12748, HG00464, HG00108, HG03169, HG02819, HG01524, HG02402, HG01784, HG00188, HG00149, HG03120, HG02166, HG02570, HG02136, HG03160, HG01360, HG00183, NA19707, HG04225, HG02334, NA19077, HG02090, HG00428, NA19462, HG03760, HG01344, NA18644, HG02511, NA20536, NA19391, NA19327, HG00475, HG01612, HG04162, HG02953, HG00500, NA21118, NA18910, NA18976, HG02497, HG01852, HG02976, HG03294, HG01777, HG01094, NA19118, HG02817, HG00373, HG01197, HG00110, HG03078, HG02604, HG01241, HG01182, HG03625, HG01921, HG02283, HG03854, HG03391, NA19225, NA06985, HG01865, HG02586, HG01589, HG00445, HG03940, HG01700, HG03567, HG02255, HG01363, NA19308, NA18978, HG00476, HG03866, HG02684, HG04134, NA11881, NA18952, HG03367, NA19749, HG00742, NA18950, HG02983, HG00375, HG00638, HG02837, HG03433, HG03012, NA20504, HG00319, HG03557, HG02814, NA19818, NA19143, HG03432, HG01432, NA19248, HG03442, HG00409, HG01028, HG03025, HG02646, HG00329, NA18987, NA12749, HG00288, NA19713, HG02676, NA20807, HG00343, HG01883, HG00372, HG03445, HG01617, HG00472, NA07056, HG03922, NA18505, HG04161, HG03890, HG01886, HG01097, HG02343, HG01191, HG01583, HG01976, NA20511, HG02386, NA19394, NA18745, NA12717, HG02944, HG00304, HG04096, HG01462, NA19909, HG01610, HG03052, HG00242, NA19204, NA18508, NA10851, HG00358, NA18565, NA20514, HG00766, HG03300, HG02727, HG00457, NA20294, NA12340, NA18959, HG00737, HG00115, NA18616, HG02589, HG00654, NA19443, NA20771, NA18602, HG04156, HG03478, HG01513, NA19107, HG03782, HG02792, HG00663, NA20814, HG03572, HG04038, HG02185, HG03943, HG03452, NA19764, HG03808, HG02952, NA20774, HG00238, HG02266, HG03578, HG02054, NA21108, HG02733, HG01840, HG01372, HG00185, HG02143, HG01069, HG00148, HG02736, NA11932, HG00232, NA19372, NA12044, NA11994, NA18748, NA19722, HG00160, HG00118, NA18557, HG02545, HG01048, HG01058, NA20355, HG01121, HG02623, HG01626, HG02780, HG01275, HG03394, HG00365, HG03784, HG01124, NA18645, HG00154, HG02820, NA19908, HG01435, HG01171, HG00282, HG03714, NA19670, HG02075, HG00245, HG01669, NA21119, NA20885, HG02678, HG04195, HG00132, NA20314, HG00556, NA20862, HG01768, HG00263, HG03081, HG02508, HG02165, HG01323, HG01149, NA18534, HG03027, HG01607, HG01029, HG01889, HG03967, NA20525, HG00284, HG00651, NA20866, HG01536, NA20581, NA19042, HG03713, HG02787, HG03388, HG02657, NA18912, HG03631, HG00140, HG03971, HG02783, HG02979, HG03914, HG03046, HG01474, NA18963, NA12144, HG01680, HG00864, HG00246, NA18570, HG00240, HG02568, HG01956, HG03653, NA12043, HG03064, HG03238, HG01148, HG00407, HG02330, HG00258, NA20872, NA18632, HG02089, HG00155, HG00383, NA19390, HG00265, HG03437, HG01980, HG02010, HG01131, HG02790, NA12272, HG03695, HG01685, HG00734, HG02304, HG01396, HG02611, NA20527, NA20362, NA19835, HG02982, NA20778, NA20902, NA19679, HG04099, HG03304, HG01137, NA19783, NA18610, HG00339, NA06994, HG02694, HG00259, NA21102, HG03733, HG02235, NA19468, HG02107, NA21093, NA20786, HG01600, NA19080, HG03872, HG01468, HG02681, HG02763, HG01111, NA19316, HG02778, HG02020, HG00171, NA18968, NA12006, HG04153, HG03955, NA20754, NA21120, NA19676, HG01516, HG04198, HG03514, HG04212, HG03773, HG02890, NA19141, HG03800, HG03366, HG01521, HG01098, HG01356, NA20543, HG00231, HG02583, NA21089, NA20877, HG03548, HG01773, NA19914, HG02337, NA21092, NA20532, NA19020, NA18917, HG04002, HG00318, HG03130, NA18486, HG02870, HG01465, NA19393, HG00364, NA19777, HG03100, HG01944, HG03667, HG03297, HG02271, HG03139, HG03836, HG02895, HG02023, NA07357, HG01694, HG01140, HG00327, HG03095, HG03235, HG03464, NA19005, HG01366, HG01070, HG02811, HG03705, HG03135, HG01779, HG02491, HG00448, NA20586, NA18982, HG03873, NA20905, HG03370, NA12348, HG03885, HG00346, NA19138, NA21103, HG01668, NA18964, HG02922, HG02111, HG01242, HG02489, HG02505, HG04214, HG01455, NA18970, HG03897, HG01067, NA19383, HG03189, NA18874, HG03968, HG03268, NA06984, NA18977, HG03595, HG01495, NA19917, NA19137, HG03788, HG01281, NA19731, HG01308, NA19385, HG00422, HG04238, HG01440, NA20869, HG00309, HG02571, HG01259, NA20811, NA19901, HG04185, NA18864, HG03058, HG02180, NA19456, NA18975, NA20533, NA18640, HG04029, NA18954, NA19200, HG00264, NA10847, HG00313, HG02737, HG01183, HG03902, HG03785, HG02439, HG03054, HG01248, NA19437, HG03007, HG01104, HG00190, HG01271, HG03291, NA19913, HG01088, NA19236, HG02322, NA20895, NA18516, HG00533, HG03945, HG01119, NA20126, NA19658, HG02968, NA20767, HG02470, HG02757, HG01049, NA21116, HG01092, HG01447, HG01390, NA18566, HG01311, HG00273, HG03871, NA20299, NA19449, HG03382, HG03476, NA11894, NA18856, HG02884, HG03974, HG02086, HG00117, HG00321, NA19257, HG02184, HG00276, HG02585, HG01286, HG03755, HG03354, NA19095, HG01596, NA20534, HG01204, HG02484, NA19035, HG02813, HG02455, HG01444, NA20773, NA20522, NA19206, NA12716, HG04188, HG03240, HG00285, HG01894, HG00357, HG01915, HG01958, HG00278, HG02923, NA19773, NA19380, HG03850, NA19334, NA19439, HG02839, NA20516, NA07037, NA19085, HG03108, NA06986, NA19475, HG00107, HG01395, HG04023, HG03565, NA18971, HG03789, NA21088, HG02970, NA19060, HG02654, NA20334, NA18994, HG01089, HG02239, HG03410, HG02679, HG00234, NA19096, HG01872, HG02186, HG02052, HG01251, NA20886, NA19755, HG04056, HG03376, NA18511, NA21104, HG03118, HG01112, HG00554, HG03129, HG02006
Known GenesPDPR
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv527e214
Frequency
Sample Size2504
Observed Gain1826
Observed Loss0
Observed Complex0
Frequencyn/a


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