A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12e214



Internal ID18980187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:16882124..16898883hg38UCSC Ensembl
chr1:17208619..17225378hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3816760
hg1916760
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3585350, esv3585349
SamplesHG01357, HG00613, HG01878, HG00380, NA19146, NA18870, HG03858, HG03598, NA19026, HG02275, HG03382, HG01811, HG03351, HG01852, NA18535, NA18871, NA12286, HG00551, HG00112, HG02727, NA12347, HG00131, NA20796, HG00632, NA11918, NA19223, HG02419, HG02152, HG02450, HG01403, HG04056, HG01325, NA19334, NA19923, HG02153, HG02681, HG01816, HG04229, NA18953, HG03469, HG01488, NA18517, HG00428, HG03829, HG01915, HG04186, HG00542, HG03642, HG03653, NA20362, NA18865, HG02029, HG03920, HG01605, HG03432, HG02694, NA18546, NA21135, HG04118, NA20805, HG02322, HG02277, NA19320, HG00335, NA20845, HG03696, NA19236, HG03199, HG03796, HG03916, HG02355, HG01936, NA18505, HG03039, NA19472, NA20803, NA20853, HG04209, NA18625, NA18950, NA19037, HG02047, HG00290, HG01468, HG03817, HG02082, HG02585, HG02081, HG00158, NA20856, HG02775, NA12763, HG01384, NA19984, HG03193, HG04144, HG03054, HG00349, HG02394, NA18635, HG00259, HG02221, NA18623, NA18990, HG01088, HG01395, HG03559, NA18636, HG01965, HG03770, NA19088, NA12273, HG00315, NA18956, NA19429, HG02016, HG02410, HG00338, NA21119, NA18637, HG01161, HG04222, HG00243, HG00284, NA19457, NA19086, HG03895, HG01443, HG02392, NA19360, HG02814, NA18640, NA19189, NA19372, NA20291, HG03391, HG03922, HG04161, HG02285, NA19102, HG01486, HG02073, NA19002, NA20878, HG01351, HG00740, HG02386, HG01494, HG03072, HG01260, HG02852, HG02364, NA20766, HG01805, HG04093, NA21092, HG02084, NA19711, HG03713, HG00674, NA18619, HG01697, HG02947, HG03224, HG03303, NA19794, NA20911, NA19391, NA19723, HG03009, HG01345, NA19025, HG02154, HG02238, NA12812, HG01799, HG03267, NA20274, NA20287, NA19755, HG00654, NA18879, HG03615, HG01802, HG02187, NA18548, NA20810, HG01804, NA18944, HG00238, HG01275, HG01366, HG02256, HG01912, HG02089, NA18924, HG00708, NA18610, NA20872, HG01119, HG02445, HG02642, HG00119, HG00275, HG01985, HG03271, HG00183, HG02798, HG00626, HG01377, HG02505, HG01807, HG00704, HG03907, HG02855, HG01474, HG01980, NA19466, HG02512, HG02839, HG03625, HG02715, HG02580, HG03370, HG02057, HG03821, NA19913, HG02427, HG01459, HG02477, HG03058, NA19445, HG01518, HG01768, HG01775, HG00318, HG00356, HG01675, NA11930, HG01603, HG02398, HG01250, HG00344, HG01130, HG01072, NA20785, HG04156, NA20506, HG00127, HG03084, NA18952, NA18975, HG02407, HG00369, HG00731, HG03693, NA19401, NA20508, HG01849, HG00384, HG02734, NA19455, NA20299, NA20802, HG02979, NA18948, NA19430, NA19317, HG02952, HG00452, NA21118, NA18969, NA18972, HG04183, HG00326, HG01524, HG02652, NA18573, NA20786, HG01286, HG00446, HG01704, HG01679, HG02389, HG04216, HG01500, HG02156, HG03019, NA20314, HG03538, NA19678, HG03229, HG01990, NA18965, HG04100, NA19355, HG01871, NA19308, NA18873, HG00188, HG00479, HG03159, HG02811, HG03756, NA20586, HG01133, HG02895, NA21106, HG00244, HG00266, NA20532, HG00115, HG00154, NA18559, NA20761, HG01086, NA20885, HG01363, NA18508, HG02137, HG02634, HG01510, HG03672, NA20356, HG03021, NA11994, NA19068, HG02121, HG00140, HG01938, HG03686, HG02577, NA19011, NA20783, HG01047, NA20807, HG01620, HG00141, HG00628, HG04194, NA18876, HG03805, NA19066, HG00150, NA19774, NA20765, HG00419, HG03100, HG03539, NA12829, HG03565, HG02356, NA19679, HG01628, HG02595, HG00357, HG04227, HG00237, HG01599, NA19316, HG02941, HG03063, HG04059, HG02888, HG03731, HG03902, NA19153, HG01280, HG02490, HG02127, HG03195, NA18525, NA19703, NA19393, NA06985, HG01455, HG03511, HG00560, NA20540, NA18558, HG00282, HG02343, NA12872, NA20818, HG00478, NA18564, HG01889, HG04029, HG02494, HG03069, NA18988, NA20821, HG00341, HG00246, HG01767, HG02052, HG00410, HG02406, NA20858, NA21103, HG01779, HG02309, HG01566, HG00590, HG03237, NA18983, HG00443, HG02067, NA18907, HG01626, HG03745, NA12749, NA18995, HG03679, HG01586, HG03061, NA18565, HG01303, NA20509, HG02561, HG03476, NA18533, HG01464, HG03081, NA19399, NA19717, HG00656, HG02678, HG02679, NA12842, HG00422, NA19118, HG00693, HG03060, HG03016, HG03388, NA18532, HG01374, HG01522, HG01102, HG01462, HG01479, NA19758, NA20502, NA19468, NA19007, HG01976, HG03824, NA07000, HG00361, HG02122, HG02496, HG03135, HG03968, HG02107, HG03160, HG03120, HG02250, HG02882, HG03354, HG02166, NA19031, NA19214, HG03279, NA18520, NA20771, HG03861, NA19904, NA20527, HG00619, NA18534, HG01353, HG03940, NA19437, HG03886, NA19114, NA18966, HG01173, HG03593, NA11920, HG00171, HG01083, NA20510, NA19209, NA18501, NA20888, HG01927, NA10847, NA18545, NA18603, NA19319, HG03189, NA20759, HG01197, HG02783, HG01615, NA12828, NA19449, HG01537, NA19920, NA20321, HG02508, HG03746, NA19019, HG03458, NA19379, HG03099, HG00698, HG02676, HG02660, NA18994, NA19651, HG04176, HG00280, HG01168, HG02613, HG04200, HG00177, HG00113, HG00737, HG03109, HG04140, HG01608, NA12287, NA19761, NA18628, HG01597, HG02982, NA19077, NA20320, HG01917, HG02312, HG03162, HG02588, NA18979, NA19085, HG02061, HG01092, NA20849, HG01392, HG02646, HG03779, HG00240, HG00308, NA19917, NA20811, HG00358, HG00130, HG00096, HG01756, HG02554, HG01122, HG01398, HG01583, HG02772, HG00692, HG02012, HG03717, HG03898, HG02385, HG02667, HG00149, HG03464, HG01684, HG03130, HG01589, HG02078, HG01879, NA18916, HG00174, HG03781, NA19036, HG01596, NA19042, HG01625, HG02757, HG03869, NA19247, NA19380, HG01111, HG01810, NA19080, HG01600, HG01465, NA19771, HG02185, HG02537, HG00110, HG01191, HG02768, NA19374, NA21128, HG03397, HG00766, NA18939, NA19384, HG00185, HG03870, NA20795, HG04158, NA18968, HG00851, NA19119, HG01281, HG00265, HG02017, HG02031, HG00102, HG00277, HG03366, HG01080, NA20815, HG02087, HG00524, HG00458, HG00599, HG01383, HG01894, HG02072, NA20813, NA19789, HG00236, HG01512, HG01921, HG01094, NA20525, HG00445, NA18597, NA19138, HG01095, NA20827, HG03246, HG03238, NA20518, HG03771, NA12889, NA19431, NA20298, NA18544, HG04035, HG03105, NA19475, HG04018, NA19740, HG01485, HG04039, HG02702, HG01947, NA18499, HG01108, NA19346, HG00320, HG00641, NA12874, HG02620, NA19185, HG00376, NA19087, HG02332, NA19661, HG03460, HG00531, HG02769, NA18629, HG02253, HG02666, HG01372, HG01515, HG01868, NA20887, HG00881, HG03963, HG00313, HG03832, NA19152, HG03698, HG04146, HG01790, NA12748, HG02165, HG02970, NA20522, NA18528, NA20809, HG03280, HG04003, HG02697, NA19222, HG00100, HG01075, HG03977, NA18561, HG02025, HG02816, HG03703, HG01064, HG00675, HG03437, HG02284, HG03410, NA19310, HG03055, HG00736, HG03634, HG02759, HG00310, HG01794, HG02513, HG02318, HG00707, HG01054, NA18511, HG01098, HG04014, HG04211, NA12340, NA18993, HG01624, HG03643, NA18648, NA20511, HG01085, HG02974, NA12813, HG02048, HG01492, HG03046, NA19451, HG03265, NA20529, HG03124, HG00375, NA19338, HG01491, HG01883, HG03973, HG02944, NA21130, HG02379, HG00190, HG02314, HG01131, HG02020, HG00106, HG03294, HG01188, HG03585, NA19017, HG01204, NA12776, HG01461, HG03401, HG03548, NA19648, HG03765, HG01571, HG00366, HG02232, HG01961, HG03485, HG00146, HG03960, HG01525, NA18488, NA19474, HG01848, HG01348, HG02433, HG02976, HG01843, HG03572, NA12341, HG01950, NA12044, HG01504, NA18626, NA19438, HG01521, HG03376, HG04076, NA18632, HG02003, NA19762, HG00543, HG01254, HG02455, NA19726, HG04219, NA19428, HG02981, NA18912, HG03470, NA12843, NA18998, HG02155, HG02360, HG00179, HG03127, NA18992, NA19323, NA19059, HG02654, NA20515, NA21088, HG02397, HG01414, NA12383, NA18566, HG00337, HG02009, NA18960, HG02050, NA18563, NA18618, HG01623, HG01595, NA19020, NA19792, HG03899, NA12873, HG00231, HG00372, HG01495, HG02658, HG02703, NA18991, NA20801, HG03884, HG00689, HG02373, HG03436, HG03911, NA12814, NA20754, NA18531, HG01815, HG00330, HG01795, HG03727, NA07048, NA18638, NA19351, HG00631, HG01396, HG02763, HG03445, NA11933, HG03965, HG00178, HG02851, HG03583, HG03024, NA18976, NA19256, HG01136, HG01527, NA18973, NA19835, NA20282, NA19773, HG03917, NA19658, HG00637, HG01668, NA18982, NA19056, NA19663, NA20892, HG00982, HG03166, NA12830, HG03971, NA21115, HG02224, HG02239, NA19213, HG00436, HG02058, HG01874, HG03225, NA21122, HG00159, HG00620, HG01948, HG02840, NA19377, HG02131, HG02442, NA12046, NA21143, HG02325, NA18537, NA18645, NA19172, NA19759, HG02019, HG01308, NA18572, NA18954, NA20536, HG01066, HG02102, HG00382, HG02562, HG00629, HG01806, HG03455, HG03914, NA18923, NA20826, NA18486, HG01271, HG03919, NA06986, NA18522, HG04070, NA20334, HG02594, HG01121, HG04173, NA18502, NA19713, HG02040, HG02439, NA20822, HG01073, HG01853, NA19098, HG01369, HG04080, NA18749, NA19901, HG00273, HG02401, HG04062, HG02611, HG03097, HG01356, HG03873, NA18504, NA18748, NA19175, NA20814, HG01676, HG00116, HG01139, HG02111, NA20774, HG02147, NA20582, HG03733, NA18997, HG03433, HG01447, HG02265, NA19707, NA18562, NA19074, NA19131, NA19159, HG01060, HG03291, HG02479, HG03297, NA18579, NA19307, NA19318, NA18974, HG02180, HG02395, HG01598, HG02085, HG03115, HG03943, NA20891, HG01880, HG01991, HG02582, HG01933, NA10851, NA18582, NA18999, NA20581, HG01063, HG01162, NA19038, NA20534, HG01326, HG01393, NA18599, NA20357, HG01405, HG02635, HG01973, HG03499, HG02182, NA20332, NA20799, NA06984, NA19394, HG01673, HG03866, NA19764, HG01269, HG01872, HG02134, HG03694, HG00663, HG02604, HG02629, HG03913, NA18646, NA20867, HG02953, HG03556, NA18989, HG00580, HG01112, HG00378, NA19434, HG00448, HG02144, HG03198, HG02186, HG02481, NA19099, HG02079, HG02141, HG03905, NA19649, NA19452, NA20513, HG03594, NA18864, HG03240, NA11992, NA18946, NA19770, HG02489, HG00281, HG01783, HG02465, HG02589, NA19063, NA19327, HG01619, HG00235, HG01593, HG01886, NA12399, NA19160, NA19655, HG02464, HG03607, HG03369, HG03809, NA18571, HG02476, NA19916, HG01746, HG01808, HG01855, NA19070, HG02286, HG02353, HG02721, NA18984, HG01125, HG03449, HG02399, HG03557, HG01892, HG03372, HG03850, NA20528, HG02136, HG04054, NA18549, NA18574, NA18853, HG00137, NA19079, HG00684, HG01631, NA20870, HG00143, HG01678, HG01781, HG02574, HG03517, HG02013, NA12760, NA19448, HG03826, NA20517, NA20772, HG00345, NA19092, HG04195, NA19750, NA19456, HG01602, HG01710, HG01863, HG02130, HG02215, HG02774, HG03950, NA19058, NA19121, HG01536, HG02179, HG00128, NA19439, HG01198, HG01870, HG02282, HG02610, HG03082, HG02470, NA18642, HG01441, HG01776, HG00864, HG02317, NA19248, NA19312, NA12154, HG01770, HG00257, HG02675, HG01104, HG03064, NA18951, NA19089, NA18530, HG02597, NA19081, HG03631, HG00328, HG01941, HG01988, NA20752, HG01089, HG00705, HG00437, HG00500, NA20851, HG01444, HG00186, NA19093, HG00565, HG01105, HG02334, HG01277, HG02896, HG01800, HG02255, NA19435, HG01079, HG01777, HG01845, HG02139, NA20296, HG00463, HG03452, NA18516, HG01850, HG04060, NA19331, NA20800, HG01082, NA21124, NA18947, HG03311, HG01200, NA20894, NA18541, HG02375, NA19144, HG01167, NA18507, HG00683, HG00581, HG00404, NA20763, HG01101, NA19257, HG02685, HG03380, HG03378, HG04023, HG01860, HG00353, HG02973, NA18868, HG02308, NA20412, HG03558, NA19028, HG01765, HG02420, HG03088, NA21090, HG00556, HG01148, NA20505, HG03461, NA11919, NA19239, HG03575, NA18627, NA11840, HG01312, HG03484, HG00421, NA12004, NA19309, HG00406, HG01305, HG02233, NA19197, NA19443, HG02568, NA19471, HG01866, HG04198, NA19083, HG03793, NA18959, HG03520, HG01501, NA11843, NA11831, NA12400, HG01253, HG04063, HG02380, NA12234, HG00343, HG03114, NA12144, HG00662, NA19324, HG02076, NA19190, NA19000, HG00097, HG00844, HG03757, HG00267, HG03786, HG04017, HG01097, HG00233, HG04025, NA18633, HG03040, HG03792, HG02541, NA19024, NA12778, HG03854, HG01766, HG02922, HG03547, NA12275, HG02337, NA18510, HG01773, HG01170, HG03168, NA11892, HG02266, HG02651, HG02511, HG03788, NA18878, NA19001, HG00101, NA20542, HG03645, HG00534, HG00525, NA18910, HG03823, HG02536, HG01077, HG02190, HG02339, HG02881, HG03132, HG04235, HG01565, NA18987, NA12890, HG01137, NA19921, HG01190, NA19376, NA19035, HG01695, HG02070, NA18740, HG03045, HG03990, HG02181, HG03367, NA18631, HG02035, HG03172, NA20289, NA21086, HG00379, HG01945, HG02687, NA20869, NA19198, NA19752, NA20758, NA12045, HG00566, NA19130, HG01177, HG03830, HG00625, HG01842, NA12717, HG03802, NA19350, NA18908, NA20804, NA20806, HG04171, HG01869, HG02064, NA18555, HG03991, HG03006, HG03095, HG03775, HG00327, HG01864, HG02691, HG04131, NA19137, NA12827, NA19625, HG00734, HG01359, HG00607, HG02793, HG03706, NA20514, HG01612, HG02184, HG01817, HG03985, NA20868, NA20866, HG01055, HG00145, HG01873, HG02023, NA18874, NA18612, HG03112, HG03874, HG01858, HG00449, NA19090, NA19149, NA18550, HG00261, NA18639, HG03301, HG03313, NA20775, HG01847, HG02943, HG02260, NA11931, HG01431, HG00117, HG03663, NA18591, NA20808, HG04026, HG03212, NA19010, HG02733, NA20778, NA18542, NA19184, HG03048, HG01182, NA21098, HG00122, HG00701, NA19834, NA20588, HG02790, HG01577, HG02760, NA19004, HG00331, HG02049, HG02323, HG02778, HG03457, HG04061, HG03687, HG01812, NA19043, NA19117, HG00321, HG02053, NA19914, NA19067, NA20585, NA19383, NA19982, NA20854, HG00371, NA18624, NA19054, NA21108, HG01456, NA20819, NA12282, HG00472, HG02696, HG00583, HG01028, NA18957, HG02716, HG00180, HG03202, NA20757, HG03867, NA21127, HG03578, NA12762, HG01851, NA18856, NA20541, HG02028, HG01707, HG03027, HG00403, NA21144, NA18634, HG00584, HG02756, NA18970, HG00133, NA18539, HG00114, HG00867, NA12006, NA21099, HG00742, NA19785, HG00108, NA18620, HG01705, HG01413, HG00360, HG03209, NA20126, HG01989, HG02178, NA20512, NA19206, NA18498, HG01914, NA19657, NA20864, HG00239, HG03931, NA18941, HG02971, NA19704, HG01699, NA18942, HG00132, NA19347, HG02771, NA19332, NA18613, HG00513, HG03428, HG02384, HG02502, HG01070, HG02545, HG03738, NA19091, NA18985, HG00589, HG03767, NA18945, HG03175, NA18606, HG03352, NA18543, HG00151, HG01259, HG03108, NA11832, HG03363, HG03446, HG00595, NA21126, HG00181, HG00611, HG03629, NA18867, HG01953, HG00262, NA19719, NA18971, NA18602, HG02262, NA18577, NA20507, HG01992, NA12003, NA20846, HG02837, HG02891, NA20812, HG03857, HG02409, NA19095, HG02522, HG04189, HG03838, HG00442, HG01489, HG01110, HG00336, HG01857, HG01789, NA19200, HG02095, HG03490, HG02820, NA19065, HG01503, NA20339, NA18980, HG01067, NA20863, HG02140, HG03136, HG01610, NA19012, HG02725, HG02808, HG01761, HG00309, HG00157, HG03121, NA12489, NA19030, NA18605, NA07347, HG02810, HG03567, NA19712, NA18616, HG00182, HG02371, HG01284, HG03784, NA21113, NA18630, HG00234, HG01519, HG00956, NA19819, NA12342, HG00129, HG00978, HG02164, HG03744, HG01859, HG03478, HG03563, HG02549, HG03129, NA18526, HG00155, HG01885, HG01970, NA20531, HG02601, HG00457, HG02223, HG03247, HG01031, HG00657, HG00614, HG01051, HG03133, HG04090, HG03419, HG00475, HG02722, HG02946, HG03571, HG01174, HG02884, HG00148, HG02010, HG03111, HG01350, NA12005, HG03298, NA18489, HG01606, HG01507, HG01762, HG02471, HG01708, HG01958, NA18963, HG01844, NA07051, NA19378, HG02274, HG02817, HG01134, HG01861, HG00319, HG03949, HG00699, HG03808, NA18557, NA18745, NA20755, NA20521, NA18943, HG01171, HG01840, NA18596, NA18949, NA19143, HG03803, HG03897, HG00592, HG03836, HG03652, HG02402, HG01107, NA19062, HG01550, NA19463, HG02390, HG00242, HG00346, NA18967, HG03451, HG00593, HG02462, HG02700, NA21097, HG04164, NA18622, HG01061, HG04153, NA18617, NA18641, HG00728, HG01183, HG01694, HG03442, HG03681, HG02090, HG03926, NA20127, HG02557, HG03007, HG03052, HG02143, HG00634, HG03079, HG01187, NA21094, HG01247, NA19082, NA21102, NA12751, NA20769, HG01437, HG02151, HG03126, NA19786, NA18747, NA19129, HG04141, HG02054, HG02382, HG00640, NA20348, NA19027, HG00255, NA18986, HG00263, HG02461, NA20753, NA19005, HG00176, HG02573, HG03934, NA19664, HG00672, HG02501, HG02429, HG02069, NA18978, NA18961, HG00103, HG03778, HG03800, HG03073, NA19720, HG01630, HG04162, HG02307, HG02571, NA19328, HG03022, HG03577, HG02586, HG01531, NA20355, NA19141, HG02624, NA19777, HG00120, HG02219, NA19235, HG02484, HG02281, HG01809, NA19729, NA20756, HG02128, HG03888, HG04033, NA18909, NA19201, HG00717, HG01801, NA18538, NA12413, NA21109, HG01862, HG01893, NA20318, HG03018, HG01390, HG03999, NA18614, HG02252, HG00530, NA20317, NA19225, HG02408, NA12546, HG01164, HG03258, NA20359, NA20543, HG02682, HG00623, NA19315, NA20792, NA19756, NA19204, HG00473, NA18981, HG00598, HG02315, HG02555, HG02813, NA18615, NA19454, HG00622, HG00671, NA21091, HG02860, NA18881, HG02425, HG00126, HG02367, NA19746, HG01354, HG03091, HG03689, HG01513, HG01613, NA18647, HG01813, NA12249, NA19436, NA21142, HG00536, HG01798, HG02108, HG01846, NA20890, HG02138, HG03521, NA20503, HG00743, HG01052, NA18933, HG01046, HG02086, HG01205, NA20906, HG00596, HG02983, NA19783, HG00879, HG03066, HG03304, NA19060, NA19023, NA19072
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv12e214
Frequency
Sample Size2504
Observed Gain1833
Observed Loss0
Observed Complex0
Frequencyn/a


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