A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3633576



Internal ID7020385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:112311890..112323797hg38UCSC Ensembl
chr13:112966204..112978111hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3811908
hg1911908
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14899789, essv14899857, essv14899712, essv14899703, essv14899875, essv14899848, essv14899673, essv14899759, essv14899511, essv14899974, essv14899654, essv14899833, essv14899394, essv14899819, essv14899710, essv14899504, essv14899830, essv14899385, essv14899752, essv14899581, essv14899645, essv14899845, essv14899811, essv14899983, essv14899488, essv14899915, essv14899772, essv14899408, essv14899755, essv14899993, essv14899882, essv14899858, essv14899957, essv14899558, essv14899582, essv14899732, essv14899727, essv14899665, essv14899886, essv14899815, essv14899622, essv14899618, essv14899411, essv14899563, essv14899605, essv14899846, essv14899731, essv14899643, essv14899649, essv14899675, essv14899930, essv14899868, essv14899547, essv14899567, essv14899392, essv14899978, essv14899721, essv14899548, essv14899585, essv14899829, essv14899773, essv14899758, essv14899823, essv14899612, essv14899510, essv14899574, essv14899801, essv14899872, essv14899446, essv14899450, essv14899861, essv14899570, essv14899477, essv14899749, essv14899571, essv14899381, essv14899512, essv14899482, essv14899730, essv14899924, essv14899790, essv14899402, essv14899388, essv14899946, essv14899439, essv14900014, essv14899498, essv14899453, essv14899709, essv14899464, essv14899904, essv14899867, essv14899486, essv14899711, essv14899866, essv14899812, essv14899635, essv14899976, essv14899849, essv14899840, essv14899748, essv14899525, essv14899425, essv14899998, essv14899644, essv14899433, essv14899620, essv14899818, essv14899545, essv14899639, essv14899565, essv14899400, essv14899923, essv14899587, essv14899777, essv14899393, essv14899961, essv14899824, essv14899898, essv14899396, essv14899532, essv14899655, essv14899659, essv14899549, essv14899956, essv14899429, essv14899891, essv14900005, essv14899688, essv14899544, essv14899460, essv14899496, essv14899632, essv14899677, essv14899674, essv14899986, essv14899766, essv14899968, essv14899774, essv14899822, essv14899614, essv14899625, essv14899864, essv14899420, essv14899906, essv14899670, essv14899463, essv14899776, essv14899664, essv14899999, essv14899831, essv14899799, essv14899940, essv14899969, essv14899738, essv14899756, essv14899817, essv14899991, essv14899479, essv14899442, essv14899791, essv14899465, essv14899885, essv14900006, essv14899973, essv14899600, essv14899910, essv14899707, essv14899996, essv14899705, essv14899416, essv14899631, essv14899617, essv14899905, essv14899575, essv14900009, essv14899521, essv14899972, essv14899657, essv14899984, essv14899894, essv14900007, essv14899958, essv14899627, essv14899781, essv14899967, essv14899694, essv14899679, essv14899417, essv14899834, essv14899516, essv14899590, essv14899466, essv14899810, essv14899473, essv14899696, essv14899551, essv14899480, essv14899445, essv14899768, essv14899606, essv14899870, essv14899432, essv14899896, essv14899633, essv14899951, essv14899594, essv14899372, essv14899685, essv14899899, essv14899546, essv14899945, essv14899879, essv14899628, essv14899561, essv14899883, essv14899723, essv14899900, essv14899701, essv14899769, essv14899798, essv14899989, essv14899947, essv14899735, essv14899981, essv14899543, essv14899682, essv14900008, essv14899729, essv14899797, essv14899856, essv14899975, essv14899714, essv14899842, essv14899382, essv14899610, essv14899418, essv14899992, essv14899935, essv14900011, essv14899754, essv14899599, essv14899489, essv14899410, essv14899717, essv14899413, essv14899994, essv14899816, essv14899455, essv14899804, essv14899579, essv14899964, essv14899652, essv14899648, essv14899576, essv14899519, essv14899953, essv14899430, essv14899686, essv14899653, essv14899375, essv14899499, essv14899850, essv14899794, essv14899762, essv14899743, essv14899863, essv14899398, essv14899491, essv14899852, essv14899475, essv14899616, essv14899405, essv14899859, essv14899841, essv14899681, essv14899559, essv14899929, essv14899782, essv14899487, essv14899784, essv14899472, essv14899698, essv14899554, essv14899387, essv14899937, essv14899726, essv14899807, essv14899692, essv14899566, essv14899376, essv14899787, essv14899718, essv14899621, essv14899536, essv14899490, essv14899404, essv14899656, essv14899431, essv14899753, essv14899966, essv14899932, essv14899391, essv14899658, essv14899399, essv14899380, essv14899921, essv14899744, essv14899414, essv14899517, essv14899925, essv14899990, essv14899529, essv14899514, essv14900010, essv14899592, essv14899406, essv14899662, essv14899795, essv14899785, essv14899897, essv14899373, essv14899415, essv14899378, essv14899914, essv14899884, essv14899802, essv14899660, essv14899395, essv14899912, essv14899467, essv14899985, essv14899683, essv14899505, essv14899568, essv14899495, essv14899428, essv14899922, essv14899666, essv14899783, essv14899384, essv14899838, essv14899434, essv14899412, essv14899950, essv14899691, essv14899468, essv14899763, essv14899422, essv14899615, essv14899438, essv14899865, essv14899436, essv14900003, essv14899595, essv14899788, essv14899715, essv14899383, essv14900001, essv14899814, essv14899527, essv14899979, essv14899728, essv14899424, essv14899589, essv14899577, essv14899837, essv14899911, essv14899608, essv14899503, essv14899557, essv14899699, essv14899530, essv14899765, essv14899651, essv14899562, essv14899485, essv14899892, essv14899779, essv14899746, essv14899767, essv14900000, essv14899741, essv14899745, essv14899386, essv14899580, essv14899461, essv14899470, essv14899641, essv14899572, essv14899638, essv14899828, essv14899609, essv14899690, essv14899825, essv14899642, essv14899515, essv14899629, essv14899751, essv14899409, essv14899719, essv14899997, essv14899671, essv14899538, essv14899936, essv14899509, essv14899647, essv14899862, essv14899669, essv14899805, essv14899390, essv14899907, essv14899873, essv14899603, essv14899786, essv14899876, essv14899854, essv14899542, essv14899827, essv14899747, essv14899702, essv14899988, essv14899623, essv14899949, essv14899860, essv14899918, essv14899401, essv14899803, essv14899931, essv14899895, essv14899708, essv14899523, essv14899813, essv14899611, essv14899739, essv14899960, essv14899954, essv14899602, essv14899725, essv14899962, essv14899733, essv14899740, essv14899847, essv14899619, essv14899920, essv14899663, essv14899853, essv14899419, essv14899456, essv14899680, essv14899757, essv14899908, essv14899624, essv14899539, essv14899909, essv14899601, essv14899526, essv14899476, essv14899687, essv14899550, essv14899980, essv14899902, essv14899597, essv14899452, essv14899457, essv14899943, essv14899443, essv14899447, essv14899693, essv14899501, essv14899481, essv14899901, essv14899676, essv14899508, essv14899697, essv14899855, essv14899598, essv14899556, essv14899695, essv14899528, essv14899916, essv14899435, essv14899494, essv14899454, essv14899636, essv14899634, essv14899591, essv14899977, essv14899518, essv14899593, essv14899374, essv14899437, essv14899604, essv14899926, essv14899917, essv14899484, essv14900002, essv14899553, essv14899646, essv14899441, essv14899502, essv14899948, essv14899843, essv14899887, essv14899640, essv14899970, essv14899809, essv14899934, essv14899889, essv14899427, essv14900004, essv14899820, essv14899874, essv14899524, essv14899537, essv14899583, essv14899389, essv14899764, essv14899492, essv14899750, essv14899471, essv14899426, essv14899535, essv14899995, essv14899661, essv14899513, essv14899520, essv14899555, essv14899684, essv14899724, essv14899578, essv14899941, essv14899449, essv14899919, essv14899761, essv14899474, essv14899944, essv14899637, essv14899493, essv14899942, essv14899573, essv14899871, essv14899742, essv14899796, essv14899780, essv14899678, essv14899880, essv14899878, essv14899821, essv14899607, essv14900013, essv14899770, essv14899586, essv14899469, essv14899459, essv14899877, essv14899771, essv14899588, essv14899626, essv14899541, essv14899506, essv14899832, essv14899722, essv14899584, essv14899451, essv14899890, essv14899851, essv14899793, essv14899952, essv14899835, essv14899522, essv14899560, essv14899458, essv14899403, essv14899933, essv14899808, essv14899531, essv14899836, essv14899552, essv14899667, essv14899564, essv14899778, essv14899407, essv14899734, essv14899668, essv14899938, essv14899650, essv14899913, essv14899716, essv14899534, essv14899881, essv14899704, essv14899720, essv14899888, essv14899500, essv14899462, essv14899423, essv14899939, essv14899806, essv14899448, essv14899713, essv14899596, essv14899792, essv14899800, essv14899540, essv14899379, essv14899982, essv14899927, essv14899737, essv14899963, essv14899689, essv14899844, essv14899826, essv14899421, essv14899397, essv14899903, essv14899672, essv14899959, essv14899869, essv14899440, essv14899483, essv14899377, essv14899706, essv14900012, essv14899955, essv14899507, essv14899630, essv14899497, essv14899839, essv14899736, essv14899893, essv14899533, essv14899478, essv14899965, essv14899700, essv14899569, essv14899971, essv14899760, essv14899928, essv14899613, essv14899775, essv14899444, essv14899987
SamplesHG01986, HG01985, NA20339, NA19028, HG01850, HG00442, HG01402, NA18647, HG04222, HG03175, NA19378, HG00257, NA18979, HG02836, NA18878, HG02050, HG03295, NA20864, HG03515, HG03193, NA20863, NA18633, HG00337, NA19446, HG03603, NA19089, HG02140, NA20320, HG01676, NA21130, HG04206, HG01766, NA18993, NA18558, HG00129, NA18547, NA18574, NA18582, HG00355, HG04070, HG00537, HG03917, NA19079, HG02131, HG00139, HG00130, NA20775, HG02389, HG01849, HG02082, HG01284, HG00406, HG03073, NA19025, NA20757, HG01851, HG02134, HG02479, NA18605, NA20800, HG02793, HG03088, HG01857, HG02380, HG01684, NA20760, HG02253, HG02084, HG03491, HG01845, NA19081, HG01796, HG04177, HG01630, NA18548, HG03301, NA18879, HG03951, NA21112, HG02141, NA18532, HG01130, HG03024, NA19452, HG00099, HG04176, NA19625, HG01625, HG00376, HG04200, HG01858, HG00382, HG04216, HG02557, NA21144, HG04026, NA18564, HG03875, HG03708, HG02546, HG02088, HG00580, HG03920, HG01874, NA12873, HG02391, NA18865, HG03702, HG01620, HG03473, HG01798, NA19083, HG02137, NA18615, HG03703, HG03103, HG02133, HG01861, HG03600, HG00614, HG02700, HG02379, HG01765, HG00513, HG02373, HG00478, NA18631, HG03157, HG02401, HG00381, HG02367, HG01804, HG03279, HG01799, HG04098, HG01269, HG02013, NA18876, HG04171, HG03470, HG01914, HG01794, HG02947, HG02353, HG01920, NA19011, NA18624, HG02351, HG03198, NA18612, HG02406, HG01776, NA19074, HG01618, HG00581, NA19431, NA18577, HG03265, HG02760, NA20762, HG01413, NA19700, HG01795, HG00121, NA19794, HG03965, NA18592, NA12814, HG01348, HG04229, HG04194, HG02648, HG02262, NA18561, HG04202, NA18507, HG02150, NA19734, NA18599, HG02061, NA18877, NA18603, NA20321, HG02476, HG02277, HG00452, HG04018, HG04164, HG00341, NA18526, HG02285, NA18962, NA19076, HG02312, NA18550, NA12812, HG03086, HG00251, HG02151, HG02407, NA18595, HG02087, HG02541, NA18635, HG04144, HG01459, HG00458, NA20769, HG02549, HG01843, HG01599, HG01816, HG03105, HG02374, HG03479, HG01848, HG00590, NA19038, HG01893, NA18749, HG02395, HG02003, HG01170, HG02885, HG01767, HG01046, NA18617, HG01892, NA12815, HG03995, HG02138, NA19189, HG02946, NA20764, HG03055, HG03583, HG02882, HG00530, HG00419, NA19451, NA18638, HG03169, HG03709, HG00543, HG02136, HG00982, HG04225, HG01797, NA19077, HG02090, HG00428, NA19462, NA19347, HG01344, HG00475, HG04162, HG02554, HG02953, HG01880, HG02497, HG01852, HG02976, HG01619, HG01414, HG00844, HG03202, HG02494, NA19031, NA18946, HG01921, HG04189, HG01842, HG03854, HG02081, NA18536, HG02399, HG00445, HG01990, HG01700, HG00128, NA21143, NA19308, HG00476, HG04219, NA18543, NA18559, HG02759, HG04239, HG02983, HG02064, HG01800, NA20351, HG03433, HG03127, HG00607, NA19310, HG00256, HG01801, NA19078, HG01432, HG00446, HG01917, NA20868, NA19438, HG02238, NA19472, HG01028, HG00378, HG02032, HG02396, HG01085, HG04209, NA18552, HG00252, HG00472, HG03611, HG00345, HG04161, HG00759, NA18549, HG00437, NA20511, NA18745, HG04096, HG03378, HG02385, HG02002, HG01624, HG02375, HG03111, HG00766, HG00457, NA20802, HG02012, NA18639, HG01806, HG03298, NA20298, HG01802, HG03229, HG03126, NA18616, HG01051, HG00261, HG00271, NA18563, HG03436, NA21135, HG03016, NA18597, HG01702, HG01277, NA19307, HG03091, HG02146, HG02383, NA18567, HG04042, HG03604, HG02860, HG03342, HG02301, NA18571, NA21108, HG03224, HG01840, HG01372, HG00451, HG02981, HG02278, NA19923, HG03619, NA19041, HG02252, HG00867, NA21109, HG02736, HG00113, NA18748, HG01844, NA18557, HG02260, NA20355, HG01626, HG00253, NA21105, HG04075, NA20318, NA18645, NA18747, HG00443, HG00268, NA19091, HG01435, NA18525, NA19006, HG00332, NA21119, NA19086, NA19984, HG04195, HG01882, HG00556, HG01768, HG01142, NA18579, HG03575, HG01345, HG03081, HG02508, HG01675, HG01029, HG04235, HG03967, NA20867, NA18573, NA19461, HG00651, HG00250, HG00479, HG00350, NA19042, HG03388, HG02259, HG02881, NA19752, HG03971, HG02979, NA18555, HG01680, NA18570, HG02568, HG03064, HG00407, HG01812, NA18632, HG02089, NA21117, NA19309, HG00383, HG00254, HG04227, NA19149, HG01678, HG01131, HG00353, HG02220, HG01685, HG02304, NA19090, HG01396, NA21123, HG02982, HG00473, HG03469, HG00237, HG02274, HG03304, NA18610, HG02558, HG02371, HG01086, HG03112, HG00259, HG02235, HG01846, HG03063, HG03060, NA21133, HG01600, NA19080, HG03077, HG02681, NA19900, HG02774, NA20502, HG01807, NA18957, NA18623, HG04153, HG03303, HG01805, HG03166, NA18620, HG04198, HG04212, NA11830, HG03857, HG02652, HG02250, HG00536, HG03548, HG03163, HG01773, HG00524, HG00351, HG03237, HG01860, HG01855, NA20274, HG04211, HG01280, HG03607, NA19020, HG02891, NA19795, HG03130, HG03668, HG01686, HG03190, NA18596, HG03963, NA18606, HG03667, HG03297, HG02271, HG03139, NA19314, HG03944, HG01694, HG03095, HG03074, HG03082, HG04100, HG02811, HG01682, HG01853, HG02485, HG00448, HG03976, HG03485, HG03370, HG02130, HG00851, HG00346, NA18642, HG01982, HG01393, HG03079, HG04214, HG03189, HG02067, HG01628, HG01281, HG01369, HG03195, HG00422, HG01673, NA21107, HG04238, HG00309, HG03225, HG02104, NA18864, NA19445, NA18640, HG00260, NA21106, HG02737, NA18544, HG02439, HG03054, HG01841, HG02233, HG01104, HG03547, HG02397, HG00701, NA19913, NA18939, HG00533, HG02390, NA18637, HG03945, HG01119, HG02968, NA20767, HG01808, HG02537, HG02221, HG00619, HG00708, NA21116, NA18757, HG02364, NA18566, HG00273, NA19449, HG03382, HG00956, HG00525, NA19740, NA19320, HG03745, HG03634, HG04152, HG03354, HG02484, NA19035, NA18546, NA18608, HG02455, NA21113, NA18542, HG03778, HG04188, NA19735, HG01915, NA19435, NA19037, HG01958, HG03850, NA19439, NA18643, HG02139, NA12874, NA19085, NA19475, HG01395, HG01556, HG00421, HG02699, HG02053, HG02392, HG02239, HG01817, HG00234, NA19096, HG03894, HG01105, HG02051, HG01775, HG03072, NA20763, HG03698, HG02006, HG01923, NA18622, HG01695, HG00978, NA18562, HG02060, HG03196
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3633576
Frequency
Sample Size2504
Observed Gain643
Observed Loss0
Observed Complex0
Frequencyn/a


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