A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657972



Internal ID9924077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:32765254..32766569hg38UCSC Ensembl
chr3:32806746..32808061hg19UCSC Ensembl
Cytoband3p22.3
Allele length
AssemblyAllele length
hg381316
hg191316
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6380109, essv6421007, essv5546697, essv5935384, essv6229881, essv6318338, essv5853619, essv6429155, essv6024337, essv5467354, essv5937422, essv5767415, essv5486541, essv5700469, essv5484242, essv6033976, essv5948790, essv5879564, essv5711381, essv6459677, essv5828784, essv5446723, essv5868619, essv5747604, essv5635767, essv5785427, essv6137924, essv5658642, essv5880119, essv5652001, essv5509309, essv6031074, essv5843355, essv5490407, essv5399502, essv5551710, essv5474418, essv6547848, essv5701402, essv6112176, essv6247707, essv5484133, essv6241378, essv5621017, essv6203103, essv5705265, essv5937266, essv5688455, essv5740674, essv6129673, essv5558444, essv5878851, essv6336589, essv6191065, essv6383938, essv6264450, essv6064810, essv6229526, essv6286807, essv6306408, essv6050274, essv5915533, essv6194383, essv5581538, essv6244493, essv5634207, essv6263882, essv6044564, essv5642486, essv5672953, essv5493330, essv6592065, essv5892489, essv6101968, essv5852200, essv6498316, essv5909419, essv6393692, essv6592507, essv6519351, essv6446595, essv6151381, essv5643884, essv5404069, essv6177372, essv5765330, essv6434571, essv5724959, essv6338889, essv5623688, essv5617778, essv5766833, essv5686074, essv5508646, essv6106975, essv6292292, essv5451872, essv6031304, essv5490666, essv6327619, essv6554258, essv6208005, essv6092679, essv5679461, essv5758671, essv6575374, essv6558533, essv6427420, essv6263928, essv6205217, essv6586092, essv6430723, essv5603633, essv5417623, essv6416858, essv5586542, essv6378768, essv5948087, essv5987133, essv5955214, essv6429185, essv6226519, essv5525345, essv6496756, essv6320764, essv6483871, essv5884451, essv5472851, essv5399094, essv5401429, essv6585693, essv6025278, essv6005466, essv5915354, essv5668566, essv5457751, essv6011943, essv5828123, essv5579897, essv6321619, essv6220865, essv5883916, essv5694593, essv5485834, essv5773171, essv6554039, essv5484482, essv5480966, essv5969687, essv6452056, essv6206047, essv6497801, essv5726474, essv6230035, essv6567401, essv6137916, essv6072178, essv5802175, essv5603707, essv6481478, essv6459299, essv6386558, essv5630319, essv6012038, essv5838669, essv6005106, essv5948934, essv6458290, essv5761221, essv6582140, essv6294364, essv6342065, essv5751819, essv6511771, essv5660567, essv5941336, essv6557842, essv6442787, essv6159240, essv6528533, essv6086620, essv6423102, essv6035626, essv6478961, essv5442484, essv5768169, essv5565672, essv5517040, essv5811075, essv6556141, essv6404203, essv6289044, essv6481862, essv6557967, essv5486170, essv5593697, essv5578604, essv6595766, essv6494149, essv6136184, essv6199616, essv5993541, essv6082649, essv5534585, essv6073432, essv5713575, essv6031772, essv5743896, essv6527200, essv6249672, essv5954359, essv6458273, essv6258682, essv6095014, essv6123602, essv5694771, essv5414778, essv5724901, essv6258233, essv6533634, essv6545768, essv5906170, essv5738575, essv5675410, essv6053969, essv6250544, essv6561251, essv5702691, essv5658746, essv6521503, essv6174554, essv6322937, essv6417321, essv5816281, essv6493496, essv5994153, essv5982363, essv6321621, essv5786705, essv5759045, essv5988221, essv5914531, essv5736284, essv6333178, essv6454282, essv6426939, essv6194576, essv5960506, essv5695462, essv6330516, essv5785519, essv6145694, essv6341322, essv5702370, essv5564153, essv5473029, essv6061750, essv6229485, essv6108317, essv5406542, essv6426621, essv6261732, essv5752370, essv6179213, essv5578662, essv5537199, essv6318402, essv5951960, essv5654401, essv6430383, essv6278501, essv5535982, essv6313501, essv6212910, essv6559619, essv5855577, essv5520148, essv6012813, essv6587333, essv6508838, essv6414051, essv5461516, essv5751235, essv5477195, essv5543661, essv5875950, essv6569539, essv5614388, essv6207924, essv5944214, essv5545085, essv6568263, essv6464941, essv5800961, essv5543611, essv5794801, essv6550052, essv5541203, essv6022974, essv5742375, essv6342216, essv5495483, essv5937552, essv5878624, essv6288930, essv6383090, essv5690872, essv5398828, essv5785460, essv5596151, essv5558562, essv6475590, essv6317053, essv5683233, essv5690171, essv6322745, essv5886696, essv5433570, essv5599342, essv6534495, essv6176822, essv6164958, essv5927673, essv6508403, essv6521895, essv5698395, essv6490350, essv5657741, essv6373648, essv5678157, essv5896155, essv6565069, essv6201735, essv5854903, essv5737266, essv6339336, essv6190833, essv5709341, essv6109947, essv6509724, essv6585152, essv6126642, essv6182461, essv5694715, essv6512115, essv5848343, essv6370939, essv6187025, essv6131150, essv6445506, essv6374036, essv5816077, essv6069420, essv5407687, essv6349458, essv5904548, essv5554839, essv5744943, essv5924547, essv5521936, essv6504204, essv5897130, essv5883601, essv5545037, essv6436927, essv6147833, essv5605592, essv6146939, essv5433839, essv5406024, essv6433336, essv6375986, essv5683371, essv6483189, essv6137155, essv6061213, essv5868796, essv6296597, essv5573656, essv6571306, essv6116414, essv5441405, essv6439063, essv5871820, essv6515770, essv5669644, essv5605554, essv6222901, essv5896637, essv6443011, essv6325030, essv6263873, essv5906921, essv5733160, essv6517133, essv6375089, essv6340533, essv6022443, essv6088850, essv6329827, essv6101210, essv5956147, essv5900440, essv5762336, essv6573014, essv6488657, essv6150681, essv6114018, essv5856252, essv6479953, essv6292786, essv6198072, essv6146318, essv5564677, essv6195812, essv6244802, essv6083588, essv5616660, essv5724874, essv5580146, essv6284643, essv6225217, essv5477749, essv6226430, essv5558851, essv6291004, essv5987341, essv5930401, essv5573123, essv6274904, essv6145135, essv5790543, essv5787802, essv6296076, essv5539807, essv6579206, essv5969019, essv5641406, essv6594279, essv6224275, essv6107358, essv6017395, essv6475415, essv6326524, essv5449853, essv6441028, essv6394920, essv6266571, essv6200502, essv5839763, essv5750476, essv5465071, essv6101748, essv5711089, essv6558337, essv6151888, essv5873611, essv5701237, essv6181544, essv6109726, essv6342629, essv5522955, essv6290051, essv6209889, essv5766929, essv6428315, essv5792933, essv5750256, essv5473479, essv6489811, essv5858761, essv5555354, essv5914587, essv5811299, essv5980576, essv6328527, essv6579016, essv6530000, essv6415937, essv6375774, essv5694014, essv6570072, essv6342514, essv6122712, essv5517381, essv6154169, essv5607802, essv5415513, essv6134396, essv5484255, essv6050396, essv6145472, essv6066808, essv6061166, essv6515860, essv6421773, essv5578874, essv5955482, essv5767239, essv6129783, essv5512197, essv6173561, essv5707800, essv5413399, essv6399744, essv5616824, essv5702583, essv5445712, essv5652644, essv6575691, essv5400077, essv6375534, essv6191649, essv5893182, essv5882464, essv5670116, essv6449110, essv6403569, essv6345580, essv6305804, essv6482961, essv6569155, essv6055286, essv5953682, essv5813886, essv5471960, essv6440451, essv6115442, essv5922305, essv6509736, essv6133955, essv6148223, essv5742253, essv5589811, essv5949682, essv6542893, essv6244246, essv6421371, essv5462044, essv6144694, essv6501877, essv5732297, essv5779129, essv6554011, essv6353603, essv6081752, essv5990624, essv6232375, essv5585918, essv5800030, essv5716893, essv5749549, essv5418052, essv5951378, essv6144570, essv5905193, essv5502249, essv6415279, essv6392323, essv6457579, essv6264312, essv5625394, essv5874965, essv6090861, essv6279474, essv5642515, essv5411018, essv6519087, essv5426621, essv5878872, essv6137782, essv5989008, essv5602719, essv5431283, essv5624870, essv6301981, essv6480968, essv6534962, essv5810891, essv5757862, essv6023699, essv6500311, essv5940121, essv6497299, essv5994468, essv5822425, essv5485523, essv6587758, essv5781560, essv5766837, essv5690143, essv5434649, essv6552413, essv6398330, essv6291902, essv5672790, essv6443129, essv5820473, essv5729962, essv5904381, essv5456845, essv6110017, essv5421142, essv6478634, essv5418909, essv5832681, essv5454999, essv6405042, essv6388254, essv6257097, essv6482851, essv6532276, essv5981112, essv6162683, essv6519319, essv6229503, essv6172015, essv6428871, essv6310527, essv6202913, essv5848540, essv5766862, essv6382699, essv6549640, essv5855709, essv6207915, essv5901748, essv6512362, essv5898743, essv6411129, essv5856080, essv5785143, essv6226938, essv5715157, essv5579758, essv5843710, essv5580257, essv5508130, essv6061492, essv5462010, essv5894250, essv5793708, essv6566053, essv6280092, essv5544755, essv6036524, essv5406449, essv5646331, essv6563269, essv6434192, essv6274189, essv6434087, essv6346548, essv5802509, essv6570709, essv6430071, essv5410357, essv6353106, essv6347931, essv5609896, essv5851581, essv5463130, essv5639603, essv6589405, essv5914939, essv6146741, essv6076248, essv6544391, essv5599966, essv6229874, essv6392875, essv6269046, essv6562206, essv5708441, essv6355563, essv6287976, essv6137875, essv5732417, essv5501226, essv6589309, essv5708082, essv5656147, essv5902317, essv5663905, essv5995601, essv5787595, essv5785328, essv6441631, essv6585280, essv5771236, essv6462810, essv6072505, essv6521504, essv5430816, essv5947937, essv5953219, essv5567430, essv5718247, essv6111250, essv6062547, essv5690239, essv6014454, essv5623737, essv6101523, essv6333493, essv5665389, essv5645274, essv6008970, essv6146058, essv5682495, essv5989479, essv5843525, essv6045122, essv6491648, essv5634195, essv5829548, essv5757476, essv5895680, essv5895621, essv5525564, essv6109971, essv5986297, essv5598227, essv6099707, essv6182199, essv5786426, essv5959416, essv6591539, essv5931032, essv5577893, essv5992578, essv5597622, essv5664226, essv6066820, essv5866895, essv6065039, essv6266334, essv6003838, essv5646005, essv6590870, essv6467190, essv5855973, essv5774312, essv6534144, essv6323642, essv6287885, essv5866406, essv6547897, essv5739306, essv5553736, essv6274545, essv6197673, essv6150628, essv5670141, essv5491171, essv5463231, essv6168474, essv5859394, essv5460413, essv6370184, essv5909472, essv5760784, essv6274120, essv6458961, essv6276627, essv6015521, essv5780220, essv6133848, essv5845871, essv6114328, essv5777845, essv5443775, essv6170052, essv5821293, essv6231102, essv5469556, essv6135662, essv5517274, essv6090095, essv5852187, essv5555594, essv6432244, essv6400896, essv6335523, essv6050718, essv6011534, essv6426218, essv6559887, essv6389377, essv6445289, essv6026462, essv6381128, essv6234236, essv6422276, essv6082708, essv6013594, essv6172339, essv5677098, essv5827152, essv6569929, essv6190475, essv5451813, essv6397039, essv6136516, essv5813306, essv5744774, essv5669661, essv5615119, essv5401934, essv6442129, essv5883410, essv5636155, essv5421487, essv5882083, essv6593463, essv6157732, essv5815338, essv6433898, essv6219205, essv6589349, essv5856669, essv5805121, essv6131325, essv6017025, essv5942609, essv5506794, essv5836883, essv5586497, essv6494250, essv6411363, essv5926974, essv6546338, essv5651489, essv5579458, essv6075779
SamplesNA18502, HG00189, HG00650, HG00442, HG00608, NA18621, HG00142, NA18947, NA19664, NA19399, NA12414, NA12843, NA11920, NA11931, HG00257, HG00151, NA18999, HG00233, NA12751, NA18504, NA19684, NA19377, NA18530, HG01518, HG01461, NA19920, NA18633, NA12750, NA20806, NA19067, HG00337, NA12813, NA19446, HG00138, HG01350, NA19379, HG00589, HG00122, NA19315, NA20798, NA20589, NA19678, NA20795, NA18558, NA18547, HG01492, NA18960, NA18618, NA18916, NA18574, NA07048, NA11918, NA20768, HG01365, NA19384, HG00537, HG00311, HG00243, NA20291, NA19079, NA18949, HG00158, HG00512, HG00281, HG00139, NA20759, NA19720, HG00335, NA20775, HG01519, NA20812, NA18868, NA19238, NA19172, NA19239, NA18985, HG00326, HG00323, NA19985, NA18867, NA19789, NA19921, HG00137, NA12777, NA18951, NA18605, NA12489, HG00731, NA18538, HG00266, NA19070, NA12878, NA20521, HG00657, NA20760, NA19717, NA19663, HG00344, NA19081, NA12718, NA18572, NA18948, NA18981, HG00692, NA19064, NA18548, NA18537, HG01047, HG01102, NA19084, HG00690, HG00404, NA12829, NA11893, HG00331, NA19750, NA19453, NA18532, NA06989, NA19059, HG01334, NA19009, NA19452, NA19682, HG00463, NA19318, NA12778, NA19625, NA18593, HG01107, NA20799, HG00611, NA19652, NA19440, HG00336, NA19256, NA18517, NA19712, NA19434, NA18564, NA18628, HG00580, NA19444, NA19331, NA20520, NA19010, HG01174, NA19470, NA19428, NA19083, NA18943, NA20281, NA19360, NA12763, HG00662, NA18615, HG01342, NA12347, NA19328, HG00614, HG00513, HG00478, NA18631, NA19223, NA19779, HG00267, NA19102, NA18873, HG00112, NA20826, HG00377, HG00274, NA20503, HG00595, NA18989, NA19129, HG00628, NA18624, NA19065, NA18612, NA19429, NA19074, NA18487, HG01437, HG00581, NA19431, NA18577, NA11832, HG00593, HG00626, HG00096, HG01060, HG00114, HG01441, NA19648, NA19700, HG00592, NA19055, NA19397, NA18924, NA19466, NA11995, NA18592, HG01359, HG01052, NA18980, HG01079, HG00100, NA18561, NA19704, NA18507, HG01188, NA11933, NA18599, HG01389, HG01374, HG00306, NA20813, NA18603, NA12045, HG00699, NA19819, NA12004, NA12058, NA20346, HG00150, NA20507, NA19190, NA12400, NA12413, NA12341, NA20537, NA19068, NA19746, NA19660, NA19076, NA18550, HG00251, NA19728, NA18595, HG00702, HG00689, HG00173, NA19723, NA18635, NA19916, HG00330, HG00634, NA19131, NA18942, HG00736, HG00610, HG01354, NA19313, NA12287, HG00247, NA19054, NA20513, NA19681, NA20336, HG00590, NA20541, NA12761, HG01134, NA12282, HG00277, NA19651, HG00120, HG00683, HG00106, HG01170, HG00236, HG00262, NA19719, NA20340, NA19371, NA18560, NA19075, NA18617, NA19471, NA19087, NA12889, HG00182, NA19002, NA19725, NA18520, HG00637, HG00338, HG00178, NA18908, NA18973, HG00530, HG00419, NA19451, NA18638, NA12748, HG00464, HG00108, NA20818, NA19007, HG00543, HG01136, HG00188, HG00149, HG00560, NA19247, HG00629, NA19657, HG00183, HG00176, NA19707, NA20787, HG01384, NA12342, NA19077, HG00428, NA19462, NA20809, NA20536, NA19391, NA19327, HG00475, NA19982, HG00584, HG00500, NA19788, NA18910, NA20770, NA20344, NA19776, NA19000, NA19655, HG00373, HG01197, NA18499, NA12892, NA20282, NA20828, NA19756, HG00141, NA18576, NA20296, NA19685, HG00476, NA20801, HG00119, NA18535, NA19834, NA19108, NA18543, NA18559, NA12775, NA19749, HG00565, NA18950, HG00375, NA19732, HG00136, HG00638, NA07051, HG00607, NA19786, HG00319, HG01108, NA20803, HG00256, HG00125, NA20341, NA19818, NA19376, NA19078, HG00707, HG00672, HG00578, NA19248, HG00312, NA19438, NA20582, HG00329, NA18987, NA12749, NA19713, HG00174, NA12830, NA20807, NA19726, HG00343, NA18552, HG00252, HG01377, NA18984, HG00472, NA07056, NA18505, NA19004, NA20322, HG00345, NA18549, HG01191, HG00437, NA19394, NA12383, NA19701, NA20761, HG00542, NA12717, HG01173, NA12842, HG00143, NA19703, HG01462, NA12286, NA20508, HG00671, NA19066, HG00242, NA18861, NA18508, NA10851, HG00559, NA12273, NA18565, HG01066, HG00315, NA20816, NA20752, NA20802, HG00244, NA19350, HG00181, NA19359, NA20294, NA19355, NA12340, NA20332, NA18959, HG00737, HG00115, NA18616, HG00449, HG00654, NA19443, HG01051, NA20356, HG00261, NA12399, NA18602, HG01522, HG00693, NA18988, NA18627, HG00271, NA19107, HG00663, NA20814, NA18563, HG00641, NA19373, NA18940, HG00272, NA19319, NA18597, HG01351, NA20774, HG01168, NA18567, NA19062, NA07347, NA19457, HG00334, NA20287, HG00185, NA19904, NA19130, NA11930, NA12275, HG01069, HG01080, NA20518, NA20278, HG00148, NA12156, HG00156, HG00325, HG00232, NA19372, NA12044, NA11994, HG00534, NA19235, HG00705, NA19722, HG00160, HG00118, NA18990, HG01198, NA18557, HG01048, HG01133, NA20342, NA20127, HG00253, HG01124, HG00154, NA19908, HG00443, HG00268, HG01171, HG00282, NA19403, HG00557, HG00245, HG00732, HG00368, NA19455, NA20314, HG00556, HG00583, HG00263, HG00275, NA18579, NA18871, HG01149, NA18534, HG00239, HG00740, NA19654, HG00324, HG00284, NA18573, NA19461, NA11919, HG00651, HG00250, NA18626, HG00531, HG00479, HG00684, HG00140, NA18553, NA19099, NA19761, HG00152, HG00146, NA18963, HG00704, NA12144, NA19469, HG00246, NA18570, NA12546, NA18541, HG01075, NA19012, NA18974, NA12043, NA18953, NA19375, NA19003, HG00258, NA18632, HG00155, HG00254, NA19390, HG00265, NA19147, HG00625, NA20276, HG00353, NA20815, NA19072, NA12272, HG00734, HG01357, NA20790, NA20530, NA20527, NA19835, HG00473, NA20778, HG00237, NA19679, NA19324, NA19311, HG01137, NA19783, HG00418, NA18610, HG01489, HG00620, HG00339, NA18501, NA06994, HG00259, HG00342, NA19716, NA19468, NA19474, NA19093, NA20510, NA18636, HG00310, NA20786, HG00280, NA11843, NA20758, NA19116, NA19080, NA19780, NA19711, NA19900, NA18983, NA19430, NA11892, NA19316, NA19312, HG01125, HG00171, NA18968, NA12890, NA12006, NA19463, NA18623, NA19063, NA12154, HG00553, NA19676, HG01516, HG00403, NA11830, HG01521, NA20543, HG00536, HG00231, HG00249, NA11829, HG00361, HG00524, NA19914, HG00187, NA19332, NA20532, NA18917, HG00367, HG00318, NA18486, HG01465, HG00103, NA18545, NA19393, NA20805, NA19777, NA19057, NA18596, HG01456, HG00566, NA18606, HG00179, HG00177, NA18870, NA12155, NA07357, HG01140, HG00327, NA18967, NA19374, NA19396, HG00127, NA19381, NA20796, NA19005, NA18944, HG01366, HG01070, HG00501, NA19382, NA19448, HG01488, HG00448, NA20586, NA18982, NA20317, NA18619, NA12891, NA12348, HG00346, NA19088, NA19138, HG00369, HG00270, NA19782, NA18611, NA19404, HG01455, HG01067, NA19383, NA18874, NA20819, NA06984, NA18977, NA19917, NA19731, NA19385, HG00422, NA19317, NA18986, HG01440, HG00309, HG00427, NA20811, NA19901, HG00159, NA19456, NA19445, NA18975, NA20533, NA19200, HG00264, NA11993, HG00260, NA18614, NA11831, NA10847, HG01353, HG00313, HG00133, NA18544, NA19437, HG01187, NA18934, HG00596, HG00328, NA12003, HG00190, HG00653, HG00577, NA18956, HG00701, HG01515, NA19236, HG00436, HG00320, HG00533, NA18637, NA20126, HG00619, HG00708, HG00635, HG01390, NA18566, HG01073, HG00273, NA19114, NA20299, NA19449, NA11894, NA20538, NA18856, NA12249, HG00117, HG00613, HG00525, HG00321, HG00157, NA12827, NA19338, NA19257, HG00276, NA18634, NA20534, NA19675, NA18945, HG01204, NA19436, NA20765, NA18546, NA18608, HG00124, NA20773, NA20522, NA12716, NA18909, HG01190, HG00285, NA19321, NA18961, HG00366, NA19473, HG00357, NA19435, NA18941, NA20804, NA19240, HG00278, NA19380, NA12046, NA19334, HG01494, NA19439, NA19467, NA20516, NA20797, NA07037, NA19085, NA06986, HG00269, NA19398, HG00111, NA18971, HG01491, NA19060, HG00421, HG00656, NA20334, HG01055, HG00123, HG00186, HG00698, HG00131, NA19213, HG01251, NA19661, HG01378, NA19755, HG01082, NA18511, NA07000, NA18522, HG01112, HG00554, HG00180, NA18622, HG01061, NA18562, NA18965
Known GenesCNOT10
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657972
Frequency
Sample Size1151
Observed Gain0
Observed Loss835
Observed Complex0
Frequencyn/a


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