A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658477



Internal ID9924582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:175481940..175487993hg38UCSC Ensembl
chr2:176346668..176352721hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg386054
hg196054
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv748e199
Supporting Variantsessv5828096, essv6083119, essv5663829, essv6565623, essv5425748, essv5857311, essv6596074, essv5883877, essv5822942, essv6445024, essv5412336, essv6487869, essv5962230, essv6511632, essv6464689, essv5593674, essv6394877, essv5471858, essv5448714, essv5943706, essv6434067, essv5549987, essv5671256, essv6250891, essv6371610, essv5428869, essv5532025, essv5679400, essv6453594, essv6418998, essv6223731, essv6271748, essv5761237, essv6181962, essv5818548, essv5723990, essv5414813, essv5577152, essv6161585, essv5437574, essv6561931, essv5784586, essv5692166, essv6508385, essv6202854, essv5780134, essv6511104, essv6153027, essv6257130, essv6181031, essv6168954, essv6286622, essv5718337, essv5575079, essv5980716, essv6586683, essv5880057, essv6423278, essv6171414, essv6133006, essv6011036, essv5694123, essv5659162, essv6170673, essv5872880, essv5586748, essv6592657, essv6583836, essv5667288, essv6083418, essv5486954, essv6501612, essv5513418, essv6196069, essv5697221, essv6417214, essv6160945, essv5701592, essv6395493, essv5809303, essv5820736, essv5811419, essv6530763, essv5838025, essv6317716, essv5744649, essv5663059, essv5969049, essv5955821, essv5417231, essv6165890, essv6099908, essv5540682, essv5734446, essv6301875, essv6354738, essv5956728, essv6577572, essv5670251, essv5514345, essv6474273, essv6434056, essv6112804, essv5956344, essv6034667, essv6148612, essv5830553, essv6141604, essv5817074, essv5628201, essv6254920, essv5995922, essv5512933, essv6424670, essv6282499, essv6158000, essv5919227, essv6568314, essv5476749, essv5891371, essv6279321, essv5425452, essv5717167, essv5709552, essv6277206, essv6250282, essv6320225, essv5699464, essv5648105, essv5958843, essv6109480, essv5544130, essv5543810, essv6275512, essv5976805, essv6248073, essv6310231, essv5421617, essv6404685, essv6266115, essv5730313, essv5803796, essv5424380, essv5985544, essv6306460, essv6423120, essv5450059, essv6183352, essv6038908, essv5410067, essv6569348, essv5467240, essv5849303, essv5425198, essv6021256, essv5920762, essv5619433, essv5601927, essv6491032, essv5820523, essv5744207, essv6349881, essv5409164, essv5636660, essv6269617, essv6518650, essv6213757, essv6098900, essv5508354, essv6195433, essv5533285, essv6017135, essv5428186, essv5722688, essv5583522, essv5505199, essv5798798, essv5758078, essv5867684, essv5905163, essv6189142, essv5573220, essv6147660, essv5807759, essv5780703, essv5889226, essv5542729, essv6261810, essv5710552, essv6512437, essv6560680, essv5955302, essv6266946, essv5668257, essv6554617, essv5591876, essv6208710, essv5880340, essv5555381, essv6128964, essv6008247, essv6514423, essv5410913, essv5456386, essv6211931, essv6349035, essv6001067, essv5845614, essv5679709, essv5667583, essv5873656, essv6339697, essv6576502, essv5698767, essv6304331, essv6243230, essv5951382, essv5417833, essv6518303, essv6257939, essv5838306, essv5803263, essv5665225, essv6104695, essv5858729, essv5476397, essv5597589, essv5644974, essv5487218, essv5950360, essv6133802, essv6299736, essv5993412, essv5434500, essv6328270, essv5465522, essv5538892, essv6308911, essv6013577, essv6578186, essv6464672, essv5572452, essv5473976, essv6123920, essv6090883, essv5721027, essv6552206, essv5828173, essv6165029, essv6309564, essv5974565, essv5953653, essv5612639, essv6129493, essv5445002, essv6579532, essv6242205, essv6537292, essv5632628, essv5976567, essv5562812, essv6160093, essv6555093, essv6371133, essv6047204, essv6158254, essv5491980, essv6474784, essv6358096, essv6084944, essv5575172, essv5759778, essv5646094, essv6574528, essv6428068, essv5918364, essv5801980, essv5579486, essv6078723, essv6458016, essv6362373, essv6030423, essv6089341, essv5718935, essv6426367, essv6284495, essv6233591, essv6424892, essv5767045, essv5565831, essv5803333, essv5980714, essv5893759, essv5649492, essv6131767, essv5613384, essv6404380, essv5793262, essv6256194, essv5551544, essv6358465, essv6063514, essv5522148, essv6082230, essv6436626, essv6296859, essv6342360, essv5586975, essv5884160, essv6389364, essv6035540, essv5870370, essv5762992, essv6362117, essv5803822, essv5823204, essv6546997, essv5715182, essv5539097, essv5430613, essv5790975, essv5407078, essv5943372, essv5952133, essv6104591, essv5700806, essv6203385, essv5774132, essv5717976, essv5726901, essv5968536, essv5414365, essv6394557, essv6264541, essv6271504, essv6345660, essv6585683, essv6296192, essv6308856, essv5896452, essv5515178, essv5536306, essv6257117, essv5740948, essv6448390, essv5730995, essv5418047, essv6378541, essv6500691, essv6205961, essv5730748, essv6083207, essv6409125, essv5426035, essv6312110, essv6064214, essv5521338, essv5836571, essv5482468, essv6169942, essv5635446, essv6090170, essv6315650, essv5829284, essv5787581, essv6577965, essv6185275, essv5821953, essv5878675, essv5923491, essv5685432, essv6426207, essv6422091, essv5892872, essv6068742, essv5424564, essv6094524, essv5422750, essv5719655, essv6537876, essv5757793, essv6499630, essv5642107, essv6476070, essv6154451, essv5851189, essv6343628, essv5435498, essv6447727, essv5922064, essv5933919, essv5473269, essv6414660, essv6143057, essv5637921, essv6250070, essv5843470, essv5952151, essv5522128, essv5914984, essv5755583, essv5466507, essv6172402, essv6552535, essv6324578, essv5878023, essv5567601, essv6439493, essv5791787, essv6229462, essv5471403, essv5452897, essv6527392, essv6297828, essv6337736, essv5601701, essv5951091, essv6417400, essv6127744, essv6544539, essv6418721, essv6091926, essv5624817, essv6371754, essv6280528, essv6124050, essv5540076, essv6575057, essv5697726, essv6398809, essv6543980, essv6364994, essv6151144, essv6448592, essv6143683, essv6175964, essv5418376, essv5983501, essv5891605, essv5684232, essv6442603, essv5853107, essv5705661, essv5493461, essv6187077, essv6032684, essv6437315, essv5905543, essv5523277, essv6217769, essv5934121, essv6450164, essv6440417, essv6251649, essv5778950, essv5402691, essv6061088, essv5572734, essv6280667, essv5832510, essv5432844, essv5455016, essv6257518, essv6192491, essv5552659, essv6115068, essv5618016, essv5744467, essv6359279, essv5832222, essv5839943, essv5772114, essv6180129, essv5766559, essv6566965, essv6150382, essv5770352, essv6560259, essv6268875, essv5946262, essv6170573, essv6095834, essv5755932, essv6228006, essv5944298, essv5659103, essv6008595, essv5651431, essv6132262, essv5969489, essv6543454, essv6521758, essv6274711, essv6489923, essv5691847, essv5423878, essv5402387, essv6135209, essv6109266, essv6234570, essv5925975, essv5671206, essv6069442, essv6162763, essv5615905, essv5605935, essv5460173, essv6519916, essv6584050, essv5551089, essv5572342, essv6391502, essv5960052, essv5867759, essv6049013, essv5987451, essv5768734, essv5918982, essv6359099, essv6133453, essv6305261, essv5887789, essv5838781, essv5407664, essv5649909, essv6271061, essv6180259, essv5425780, essv5969104, essv5955663, essv6427367, essv5883273, essv6140614, essv5467751, essv5644788, essv5517092, essv6477775, essv5680676, essv6242549, essv6102422, essv5723634, essv5452432, essv6054144, essv6313486, essv6535569, essv5879076, essv5722218, essv6061845, essv5513131, essv6140959, essv6119310, essv5992052, essv5503651, essv5885476, essv5749582, essv5895330, essv6500594, essv6141765, essv6197072, essv6200690, essv5523611, essv6025382, essv5900613, essv5548663, essv6061575, essv6078652, essv5810027, essv6082458, essv5475512, essv6110103, essv6367372, essv6131156, essv5523395, essv6129315, essv5831367, essv5752998, essv6013568, essv5461943, essv6554408, essv6240392, essv6260561, essv5892436, essv5632795, essv5646613, essv6433394, essv6184020, essv5848328, essv6121833, essv6138927, essv6260180, essv5915566, essv6279232, essv5504356, essv6230511, essv6525566, essv6138706, essv5953572, essv5978900, essv5398084, essv6100506, essv5755835, essv5437417, essv6192507, essv5461174, essv6367078, essv5958746, essv6536770, essv6414821, essv6229543, essv6124517, essv5549038, essv6442521, essv5936328, essv6249410, essv6588407, essv6262392, essv5753199, essv6084957, essv6233249, essv6492325, essv6443715, essv6340303, essv6202897, essv6313973, essv6031664, essv6033993, essv6203371, essv6548619, essv6246940, essv5833313, essv5731907, essv6343819, essv6073143, essv5996586, essv5638629, essv6368976, essv6313992, essv5889557, essv5451976, essv5697192, essv6071671, essv6306607, essv5816737, essv5701244, essv6549095, essv6592218, essv6200254, essv5989216, essv5412957, essv5560405, essv5999458, essv5911446
SamplesNA18502, HG00650, HG00442, NA19058, NA20529, HG00608, NA18621, NA18947, NA19664, NA19399, NA11920, NA11931, HG00257, HG00151, NA18999, NA18504, NA19377, HG01461, NA19920, NA18633, NA20806, NA19067, NA12813, NA19446, HG00138, NA19171, NA19379, HG00589, NA19315, NA20589, HG01167, NA20756, NA20795, NA18558, NA18547, HG01492, NA18960, NA18618, NA18916, NA18574, NA11918, NA18582, HG01083, HG01365, NA19384, HG00537, HG00243, NA19079, NA18949, HG00512, HG00139, NA20759, NA19720, HG00335, NA20775, NA18868, NA19172, NA19239, NA18985, HG00326, NA18867, NA20515, NA19789, NA20755, NA19921, NA18951, NA20535, NA12489, HG00731, NA20800, NA18538, HG00266, NA19070, NA19056, HG01095, HG00657, NA19717, NA19663, HG00344, NA19081, NA18572, NA18948, NA18981, HG00692, NA19064, NA18907, NA18537, HG01047, HG01102, HG00690, HG00404, NA12829, NA11893, NA19453, NA18532, NA19059, HG01334, NA19452, NA19682, NA18523, HG00463, NA19395, NA18593, HG01107, NA19729, HG00611, NA19652, NA19440, NA19256, NA18517, NA19712, NA18564, NA18628, HG00580, NA19331, NA20520, NA19010, HG01174, NA19470, NA19428, NA19083, NA18943, NA19360, NA12763, HG00662, NA18615, HG01342, NA12347, NA19328, HG00614, HG00513, HG00478, NA18631, NA19779, NA18609, NA19102, NA18873, NA20826, HG00274, NA20503, HG00595, NA18989, NA19129, HG00628, NA18624, NA19065, NA18612, NA19429, NA19074, HG01437, HG00581, NA19431, NA18577, NA20772, HG00593, HG00626, HG01060, HG00114, HG01441, HG00592, NA19055, NA19397, NA11995, NA18592, NA18980, HG01079, HG00100, NA18561, NA19704, NA18507, HG01188, NA11933, NA18599, HG01389, NA20813, NA18603, HG00699, NA19819, NA12004, NA12058, NA20346, HG00150, NA20507, NA19190, NA19098, NA18526, NA12341, NA19068, HG01250, NA19746, NA19660, NA19076, NA18550, HG00251, NA18595, HG00702, HG00689, NA19723, NA18635, NA19916, HG00634, NA19131, NA18942, HG00610, NA19197, HG01354, NA20540, NA19313, NA12287, NA19054, NA18498, NA20513, NA19681, HG00590, NA20541, NA12761, HG01134, NA12282, NA19651, HG00120, HG00683, HG00106, HG00262, NA19719, NA20340, NA19371, NA18560, NA19075, NA18617, NA19471, NA19087, NA12889, NA19159, HG00182, NA19002, NA19725, NA19189, NA18520, HG00637, NA19209, NA12828, NA18908, NA18973, HG00530, HG00419, NA18638, HG00464, NA19007, HG00543, HG00149, HG00560, NA19247, NA18613, HG00629, HG01360, HG00176, NA19082, NA20787, NA20524, NA19077, HG00428, NA19462, NA19347, NA20536, NA19391, NA18991, HG00475, NA19982, HG00584, NA19788, NA18910, NA18976, NA19776, NA19000, NA19655, HG00373, NA18499, HG01383, NA19225, NA20828, NA19756, HG00141, NA19160, NA18536, NA20542, NA19401, HG00476, NA20801, HG00119, NA18535, NA11881, NA19108, NA18952, NA18543, NA12775, HG00565, NA18950, NA19732, HG01253, HG00136, HG00638, HG00319, HG00256, HG00125, NA20341, NA19818, NA19376, NA19078, HG00707, HG00672, HG00578, NA19248, NA19438, NA20582, NA19472, HG00329, NA18987, NA12749, NA19713, NA18972, NA18552, NA18984, HG00472, NA18505, NA19004, NA18549, HG00437, NA19394, NA19701, HG00542, NA12717, HG00143, NA19703, NA19909, NA20766, HG00671, NA19066, NA19204, NA18861, NA18508, NA10851, HG00559, NA12273, NA18565, HG01066, NA20816, NA20802, NA19359, NA19355, NA18959, HG00115, NA18616, HG00449, NA20517, HG00654, NA19443, HG01051, HG00261, NA20771, NA18602, HG00693, NA18988, NA18627, HG00271, NA19107, HG00663, NA07346, NA18563, NA19373, NA18940, HG00272, NA19319, NA18597, HG01351, HG01168, NA18923, NA18567, NA19062, NA07347, NA19457, NA18571, HG00185, NA19904, NA19130, NA11930, NA12275, HG01080, NA20518, NA12156, HG00156, HG00325, NA11932, NA19372, NA12044, HG00534, NA19235, NA19207, HG00705, NA19722, HG00160, NA18990, HG01198, NA20342, HG00253, HG01124, HG00154, NA19908, HG00443, HG00268, HG01171, HG00282, NA19670, NA19403, HG00557, NA18933, HG00732, NA19455, NA20314, HG00556, HG00583, NA18871, HG01149, NA18534, HG00551, HG00740, NA19654, NA18573, NA11919, HG00651, NA18626, HG00531, HG00479, NA20581, NA18912, HG01101, HG00140, NA18553, NA19099, NA18555, HG00704, NA12144, NA19469, HG00246, NA18570, NA18858, NA18541, NA19012, NA12043, HG01148, NA19375, NA19003, NA18632, HG00254, NA19390, HG00625, NA20276, NA19072, NA12272, HG00734, HG01357, NA20530, NA20527, HG01375, HG00473, NA19324, NA20544, HG01137, NA19783, HG00418, NA18610, HG00620, NA18501, NA06994, HG00259, NA19716, NA19468, NA19093, NA20510, NA20786, HG00280, NA11843, NA20758, NA19116, NA19080, NA19780, NA19711, NA19900, NA18983, NA19430, NA19316, HG01125, HG00171, NA18968, NA12006, NA19463, NA19063, NA19346, NA18620, HG01516, HG00403, NA11830, HG01521, HG01356, HG00536, HG00231, HG00524, NA20531, NA20532, HG00367, NA18486, NA18545, NA19393, NA19057, NA18596, HG00566, NA18606, NA18870, NA12155, NA07357, HG01140, NA18967, NA19374, NA19396, NA19381, NA20796, NA18944, HG01070, NA19201, HG00501, NA19448, HG01488, HG00448, NA20586, NA19119, NA18982, NA20317, NA18619, NA12348, NA11992, NA19088, NA19138, HG00369, HG00270, NA19782, NA18964, NA19404, NA19383, NA20819, NA06984, NA18977, NA19917, NA19137, HG00422, NA18986, HG00309, HG00427, NA19901, HG00159, NA19456, NA19445, NA18975, NA19200, HG00264, NA11993, HG00260, NA18614, NA11831, HG01353, NA18544, NA19210, NA19437, HG01187, HG00596, NA20505, NA12003, NA19152, HG00653, HG00577, HG00701, NA19236, HG00436, HG00320, HG00533, NA18637, NA19658, HG00619, HG00708, HG00635, HG01390, NA18566, HG01073, HG00273, NA20299, NA11894, NA20538, NA18856, NA12249, HG00117, HG00613, HG00525, HG00321, NA12827, NA19338, NA19257, NA18634, NA18945, HG01204, NA18546, NA18608, NA20773, NA18542, NA12716, NA18909, HG01190, NA18961, NA19473, HG00357, NA19435, NA18941, NA19240, HG00278, NA19380, NA19144, NA12046, NA19334, NA07037, NA19085, NA06986, NA19398, NA18971, HG01491, NA19060, HG00421, HG00656, NA20334, HG01055, HG00123, HG00698, HG00131, NA19213, NA19661, HG01378, NA19755, NA18488, HG01082, NA19758, NA18511, NA07000, NA18522, NA18562, NA12776, NA18965
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658477
Frequency
Sample Size1151
Observed Gain0
Observed Loss652
Observed Complex0
Frequencyn/a


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