A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671226



Internal ID9590645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:212297793..212299274hg38UCSC Ensembl
chr1:212471135..212472616hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg381482
hg191482
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5811341, essv5884999, essv6372526, essv6495002, essv5462277, essv5431207, essv5510319, essv5793192, essv6196992, essv5542145, essv6014467, essv6021760, essv6457476, essv5957026, essv5488416, essv5804674, essv6417922, essv5788872, essv5838985, essv6112263, essv5940175, essv6188596, essv5712719, essv6067432, essv6310468, essv6470253, essv5458037, essv5718010, essv6105824, essv6481943, essv6128554, essv6206518, essv5769772, essv5970582, essv6225352, essv6065020, essv5644667, essv6377614, essv5802061, essv6569299, essv6458302, essv6568782, essv5913987, essv6457454, essv5808924, essv6427497, essv6523307, essv5701249, essv6088842, essv5574885, essv5637304, essv6094956, essv6598286, essv5750011, essv6548203, essv5712647, essv6328529, essv6572550, essv5711738, essv5504211, essv6239184, essv6424426, essv5712410, essv6123313, essv6115506, essv5480296, essv5549661, essv5818776, essv5860796, essv5597307, essv6190675, essv5413438, essv5510929, essv5575401, essv6485865, essv5594901, essv5910285, essv6058319, essv6035063, essv5870551, essv5847701, essv6442945, essv6455913, essv5948677, essv6040990, essv6170055, essv6357180, essv5465201, essv6229491, essv6164139, essv6507270, essv5856609, essv6591978, essv6595999, essv5678500, essv6240940, essv6591459, essv5852400, essv5974987, essv5804396, essv5488015, essv5425528, essv6273563, essv6141630, essv6443344, essv5472616, essv5547820, essv5800012, essv5605826, essv6219902, essv5844088, essv6259827, essv5945539, essv6586854, essv5478700, essv6466594, essv6492162, essv6185936, essv6320523, essv6285384, essv6009397, essv5443042, essv5918166, essv5655905, essv5614616, essv5785511, essv5740110, essv5902123, essv6369376, essv6434563, essv6398909, essv5591663, essv6362044, essv6258520, essv5559185, essv5814070, essv6269344, essv5970647, essv5432639, essv5500677, essv6203954, essv5859367, essv6296934, essv6353884, essv5885924, essv5863043, essv5952580, essv6235859, essv6322876, essv5573888, essv6341556, essv6422444, essv5534490, essv5824440, essv6472593, essv6583618, essv6568043, essv6235750, essv6079024, essv5611775, essv5850904, essv6426967, essv6354821, essv6417325, essv5534683, essv6528854, essv6490412, essv6490420, essv6565206, essv6578365, essv6237987, essv6354936, essv5623330, essv6408503, essv5585333, essv6500014, essv5691368, essv5940597, essv5488362, essv5468911, essv5486787, essv6160814, essv6268213, essv6149933, essv6354911, essv6490944, essv5632639, essv5695598, essv6162351, essv6261673, essv6407901, essv5585323, essv5927580, essv5902537, essv6596761, essv5460629, essv6046019, essv6152754, essv5893245, essv6022734, essv6242642, essv6424833, essv5677077, essv5973672, essv5429651, essv5826974, essv6248586, essv5651171, essv6188850, essv6353250, essv5446414, essv5525952, essv5423939, essv6021007, essv6085176, essv6588511, essv5617894, essv5873772, essv6475141, essv6509564, essv5576666, essv5578701, essv5584069, essv5942194, essv6297886, essv5812349, essv5926970, essv6285813, essv5448849, essv5902134, essv5845799, essv5731986, essv5748643, essv5778250, essv5866173, essv6120369, essv5600090, essv6383913, essv5757015, essv6306105, essv6353903, essv5560291, essv5755535, essv6198139, essv6412416, essv5771669, essv6355460, essv5914511, essv5570240, essv6488571, essv5806188, essv5503679, essv6072152, essv6386498, essv5473812, essv5572548, essv6006106, essv5891269, essv6545606, essv5435008, essv5509067, essv5604205, essv5447556, essv6199971, essv6417855, essv5688692, essv5607180, essv5621090, essv6045652, essv5738139, essv5517613, essv6145810, essv6359795, essv6504040, essv5731443, essv6396143, essv5409932, essv5753479, essv5787683, essv6448487, essv5505074, essv5672568, essv6085986, essv6332868, essv6385782, essv6595192, essv5677589, essv6186367, essv5530513, essv6184188, essv5833587, essv5871945, essv5919851, essv5932052, essv6170036, essv6361836, essv6071914, essv6344993, essv6135828, essv6398683, essv6530405, essv6551106, essv6243474, essv5551822, essv6177220, essv6527843, essv5543985, essv6532155, essv6282719, essv5715307, essv5828085, essv5764695, essv6091748, essv5574766, essv5826712, essv6538389, essv5762130, essv6204220, essv6463177, essv6408939, essv6557752, essv5684061, essv5839671, essv5873186, essv5621668, essv5650659, essv6277986, essv5853016, essv5872131, essv6021160, essv5543204, essv5742476, essv6105690, essv5442220, essv5579467, essv6153707, essv6363308, essv5733861, essv6322494, essv5485938, essv5742953, essv5460788, essv5881956, essv6466424, essv5561800, essv5843044, essv5605976, essv5698202, essv6212835, essv5707475, essv5950035, essv6366868, essv6002118, essv6127738, essv6112955, essv6428301, essv5763573, essv6124167, essv6341352, essv6467930, essv5878081, essv5977119, essv6363660, essv5564214, essv5779145, essv5630648, essv6017992, essv5892814, essv6137528, essv6273554, essv6431891, essv5490342, essv5850575, essv5534512, essv6111384, essv5660870, essv5843818, essv6191257, essv6204129, essv6454850, essv6351697, essv6552981, essv6595753, essv5411496, essv6193117, essv6545419, essv5468337, essv6536306, essv5757526, essv5578654, essv6299447, essv6549273, essv5459401, essv5490133, essv6430076, essv5981700, essv6362431, essv6092950, essv6010328, essv5712325, essv5763978, essv5873225, essv6388866, essv5593981, essv6062038, essv6297534, essv5552679, essv6173675, essv6196726, essv5959322, essv6335732, essv6540326, essv5714191, essv5690864, essv6409568, essv6554888, essv5452035, essv5406692, essv5773224, essv5918704, essv6162515, essv5477067, essv5497679, essv5760794, essv5874863, essv5461641, essv6464575, essv5486725, essv5472842, essv5922984, essv6383229, essv5528523, essv6529800, essv6516968, essv5966806, essv6259299, essv5586574, essv6065204, essv6591881, essv6034325, essv5789521, essv6219445, essv6592184, essv6458301, essv5516135, essv5938773, essv5614453, essv5888217, essv6198831, essv5680660, essv6073254, essv5582207, essv6497498, essv5800720, essv5771108, essv5841087, essv6472801, essv6538514, essv5468088, essv5845150, essv5881975, essv6585474, essv5434429, essv5522490, essv6519261, essv5705199, essv5538425, essv6427573, essv5982307, essv5960577, essv6548995, essv5810473, essv6066639, essv5982554, essv5725372, essv6401996, essv5633627, essv5768805, essv6485965, essv5798830, essv5751930, essv6116225, essv6189239, essv5867704, essv6491459, essv6453040, essv6211811, essv5852176, essv6441564, essv5746474, essv5563466, essv5600841, essv6345258, essv6458114, essv5671444, essv5516539, essv5502990, essv5635473, essv6160897, essv6073944, essv5513433, essv5657326, essv6228540, essv6131110, essv6441650, essv5599373, essv6184536, essv5632586, essv6396377, essv5963413, essv6436718, essv6549814, essv5524127, essv6236657, essv6444152, essv5794554, essv5845271, essv5403769, essv5904054, essv5933717, essv6210642, essv6533576, essv5954731, essv6288937, essv6557559, essv6581748, essv6413461, essv5860160, essv5920558, essv5996693, essv6223055, essv5400897, essv5708500, essv5461128, essv5689191, essv6109407, essv5818761, essv5961228, essv6160460, essv6190532, essv6189407, essv5689057, essv5869664, essv5869488, essv5408766, essv6397904, essv5579003, essv5615786, essv5715371, essv5853214, essv5891345, essv6272178, essv5886350, essv6408292, essv6465071, essv5579586, essv5673436, essv6090133, essv6034053, essv5481074, essv5405408, essv6434432, essv5790274, essv5946993, essv6212531, essv5583260, essv5877747, essv5425349, essv5739966, essv6066695, essv5702827, essv6468454, essv6146076, essv6131529, essv5639350, essv6079431, essv5519470, essv6083994, essv6125245, essv5936730, essv6224859, essv5612894, essv6259612, essv5434794, essv5604105, essv5901918, essv6429262, essv6432490, essv5525404, essv6028610, essv6442730, essv6554911, essv6352200, essv6136590, essv5755891, essv5610354, essv5645860, essv6589951, essv6256211, essv6550335, essv5869977, essv5400314, essv5687439, essv6436518, essv5998210, essv5517034, essv6010471, essv5911132, essv6325212, essv5408181, essv5566704, essv6216642, essv6251425, essv6407944, essv5592904, essv5812576, essv5992995, essv6551122, essv6221352, essv5743730, essv6253017, essv5450004, essv5528888, essv5713454, essv6457277, essv5698869, essv5964646, essv6230114, essv5805143, essv6378632, essv6260132, essv5986851, essv6530004, essv6026628, essv6079613, essv6108282, essv5444620, essv5730362, essv6157679, essv5477133, essv5549646, essv5660928, essv5470498, essv6262817, essv5486783, essv5915518, essv6261687, essv6105984, essv5817847, essv5725664, essv5955104, essv6276601, essv6483586, essv6522075, essv6102191, essv6520858, essv5968408, essv6079580, essv5957874, essv6176719, essv5461222, essv5513880, essv5953401, essv5414774, essv6278140, essv6546110, essv6585743, essv5792301, essv5932853, essv5955847, essv6327856, essv6049765, essv5549806, essv5626124, essv5602372, essv5851561, essv6411951, essv6005944, essv6060800, essv6129108, essv6099165, essv6529326, essv5825129, essv6320852, essv6472391, essv5426551, essv6470717, essv5920270, essv6406259, essv6294712, essv5498922, essv5563628, essv5615100, essv6489274, essv6238246, essv6413634, essv5684679, essv5683724, essv6469003, essv5452553, essv5639389, essv5427446, essv5893769, essv6236370, essv5396735, essv6027387, essv6242328, essv5421747, essv6509357, essv5845790, essv5929644, essv5884618, essv5867447, essv6142634, essv5928359, essv6265346, essv6545598, essv5667298, essv6166927, essv5871281, essv5521865, essv6288058, essv5414868, essv5661022, essv6097498, essv6348540, essv5980903, essv6522426, essv6237642, essv5421002, essv6126802, essv5497892, essv5748313, essv5778362, essv6160730, essv5819217, essv5769841, essv5942630, essv5719945, essv6243745, essv5525977, essv5824126, essv6336143, essv6071949, essv5792534, essv6502520, essv5433964, essv5746348, essv5446029, essv6291508, essv5508223, essv5525603, essv6556558, essv6320430, essv5443272, essv5537945, essv6374435, essv5635487, essv5754977, essv5855369, essv6505423, essv5806215, essv5822206, essv6236361, essv6292019, essv6446460, essv6472451, essv6328054, essv5752120, essv6536555, essv5534761, essv6101174, essv6266557, essv6026618, essv5818705, essv6355856
SamplesHG01357, HG00613, HG01441, NA18870, NA19248, NA19312, NA12154, HG01440, HG00257, NA18951, NA18535, NA18871, HG00551, HG00328, NA18523, NA20752, HG00437, HG00500, HG00112, HG00274, HG00186, NA19093, HG00131, NA20544, NA20796, HG00565, NA19311, NA11918, NA19469, NA20346, NA19223, NA19435, HG01079, HG01389, NA20296, NA18516, HG01365, NA19334, HG00189, HG00577, NA19788, NA19331, NA19453, HG01082, NA18953, HG01488, NA18517, HG00428, HG00542, HG00139, NA18541, NA18546, HG01167, NA12058, NA18507, HG00111, NA19685, HG00187, HG00404, HG00335, HG01101, NA19257, NA19701, NA19236, NA20322, NA18505, NA19472, NA20803, HG00156, NA18868, HG00158, HG01148, NA11919, NA12763, HG01384, NA19239, NA18627, NA19076, HG01375, HG00421, NA12004, NA18635, NA19675, HG00259, NA19197, NA19443, NA18623, NA19471, HG01048, NA19107, NA19444, NA18990, HG01124, NA18592, NA19083, NA19088, NA12273, HG00315, NA18956, NA19429, HG00338, NA18959, NA18609, NA11843, NA19985, NA11894, NA12400, NA20520, HG01253, NA18593, HG00243, HG00284, NA19457, NA12144, HG00662, NA19324, NA19728, NA19190, NA19000, NA19055, HG00306, NA19360, NA19725, HG00267, NA19189, HG00233, NA19372, HG00653, NA20760, HG00732, NA12778, NA19716, NA19102, NA12275, NA18510, NA19002, HG01170, HG00249, HG01351, HG00740, HG01494, NA20542, HG00534, NA20766, NA18910, NA19711, NA18940, NA18987, HG00427, HG01137, NA19921, HG01190, NA19376, NA19391, NA19723, NA20276, NA19009, NA19116, NA18631, NA20289, NA20287, HG00118, NA18548, NA11830, HG01366, NA18924, HG00708, NA19198, NA18610, NA20758, NA12045, HG00566, NA11829, NA19130, HG01177, NA19240, HG00119, HG01498, HG00183, NA19350, NA18908, NA20804, NA20806, HG00626, HG01377, NA18555, NA19385, NA19779, NA19466, NA18553, HG00327, HG00323, NA20281, NA19137, NA12718, HG00313, NA12043, NA19152, NA19445, NA19625, HG00152, HG00734, HG01359, HG01518, NA12249, NA18861, NA19436, HG00318, HG00536, HG00607, NA12750, NA11930, NA07037, NA19321, NA20522, NA20278, NA20809, HG00344, HG01072, NA20785, HG01052, HG00100, HG01075, NA18561, NA20506, NA18933, NA19404, HG01055, NA18952, NA18874, HG01342, NA20516, HG00731, HG00245, HG00596, NA19783, NA19401, NA20508, HG00449, NA19060, HG00310, NA19003, NA19072, NA18511, NA19455, NA06989, NA20299, NA12340, NA20294, NA20802, NA20775, NA18948, NA19430, NA19670, NA19317, NA20808, NA19451, NA18972, NA20816, NA20529, NA19010, HG00375, NA19338, HG00326, NA20786, NA19782, HG00270, HG00553, NA19461, HG00190, NA19210, HG00106, NA19834, NA20588, HG01188, HG01204, HG01461, NA19648, NA20314, NA19004, NA19678, HG00557, HG00578, NA11893, NA19108, HG00146, NA18965, NA18488, NA19355, NA19474, NA19084, NA19780, NA12341, NA19467, NA18873, NA19147, HG00188, NA18626, NA19776, NA19438, NA19654, NA20586, HG00247, HG01133, HG01521, HG00256, NA20770, HG00266, NA19762, NA20532, HG00543, HG00154, NA18559, HG00321, HG00339, NA19726, NA20761, NA19428, NA20585, NA18912, NA19383, NA19982, NA12843, NA18934, HG00179, HG01140, NA18508, NA19054, HG01456, NA19059, NA20819, NA20356, HG00472, NA19652, HG00583, NA12383, HG00337, NA11994, NA19057, NA19068, NA19660, HG00140, HG00638, NA18576, NA18960, HG00180, NA18563, NA07357, NA19900, NA20504, NA20757, NA19722, HG00610, NA12762, HG00231, NA20783, HG01495, NA20801, HG01047, NA20807, HG00689, NA19396, NA18856, HG00141, HG00628, NA19397, NA07048, NA19398, NA19440, NA19066, NA20541, HG00150, NA19774, NA20765, HG00178, HG00258, NA12829, NA19256, HG01113, HG01136, NA18973, NA19835, NA20282, NA20336, HG00264, NA19773, HG00637, NA18982, NA19681, HG00254, NA19056, NA19663, NA19679, HG00403, HG00357, NA18634, NA20589, HG00237, HG00584, NA19316, NA19684, NA18539, NA20773, HG00114, HG01497, NA12006, NA19213, NA19676, HG00436, HG00620, NA19377, HG00124, NA12046, NA19785, HG00108, NA18620, NA19172, NA19759, NA12892, NA20536, HG00268, HG01066, NA19375, NA19393, NA20126, NA06985, NA19373, HG00629, NA18498, NA18923, NA20826, NA18486, HG00559, NA06986, NA18522, NA19238, HG01455, NA20334, NA20344, HG00260, NA18502, NA19657, HG00560, NA19713, NA19731, NA20540, NA18558, HG00239, NA18941, NA19901, HG00273, HG00282, HG00232, HG01176, HG01356, NA18504, NA19704, NA20814, NA20818, HG00478, NA18487, NA18564, NA18858, NA18942, HG00116, NA19347, NA20774, NA20828, NA19332, NA19909, HG00513, NA20582, HG00153, HG00329, HG01070, NA19707, HG00246, NA19074, NA19382, NA18579, NA19318, NA18985, NA19462, HG00589, NA18945, HG01149, NA18543, NA11832, NA10851, NA18999, NA20537, HG00590, HG00595, NA20534, NA18983, NA18907, NA19078, HG01334, NA12749, NA20332, HG00650, NA18867, NA19394, NA19403, NA18565, HG00138, HG00663, NA12156, HG00262, NA18560, NA18989, HG00580, NA19719, NA18971, NA19434, HG00448, NA18602, NA18577, NA19099, NA19446, NA19452, NA20507, NA11992, NA12003, NA19770, NA19749, HG00281, NA19063, NA19327, NA18917, NA11993, NA12399, NA19399, NA19717, NA20812, HG00656, NA12842, NA19160, NA19655, NA18571, NA19916, HG01251, NA19070, NA19470, NA18984, NA18611, HG00251, NA19171, NA20528, NA18532, NA18853, HG00442, HG01374, HG01522, HG00137, HG01102, HG01462, HG01489, NA19079, NA19381, NA19473, NA06994, HG00143, NA19758, HG00336, NA12760, NA19448, NA20502, NA20517, NA20772, HG00272, NA19468, NA20538, NA19200, NA19007, NA20519, NA19456, HG00136, NA18519, NA07000, NA12775, NA18980, HG01067, NA19439, HG00361, HG01198, NA19012, HG00309, HG00157, NA12489, HG00537, HG00252, NA18605, NA07347, NA20787, NA19712, NA18520, NA18595, NA18616, NA20771, HG00182, NA19904, NA20527, NA18534, HG01353, NA18630, HG00418, NA19819, NA12342, NA19437, NA19114, HG01173, NA11920, HG00171, HG01083, NA20510, NA19209, NA18501, NA20535, HG00155, HG00160, NA10847, NA19319, HG01197, HG00657, NA19359, HG00614, HG01051, NA12828, HG00475, HG01174, NA19449, HG00148, NA19920, HG01350, NA12005, NA18489, NA19379, NA20539, NA18963, NA07051, HG01134, HG00177, NA20798, HG00319, HG00253, HG00699, NA20755, NA12287, NA20521, NA18943, NA19761, HG01171, NA18628, NA18949, NA20340, HG00269, HG00592, NA12414, NA19077, HG01107, NA19062, NA19463, HG00242, NA19085, HG00346, HG00593, NA19390, HG01378, NA19917, NA18622, HG00096, HG01061, HG00692, HG01183, NA20127, NA19908, HG00098, HG00149, HG00125, HG01360, NA19075, NA11995, NA18916, HG00174, HG00276, NA19700, NA20341, NA12751, NA20769, HG00373, NA19247, NA19313, NA19380, HG01111, HG01437, NA19395, NA19786, NA19080, NA07346, NA12716, NA19129, NA19771, HG01191, NA19374, HG00640, NA20348, NA19384, HG00325, NA20790, HG00185, NA20795, NA18986, HG00263, NA20753, HG00176, NA19664, HG00265, HG00672, HG01069, NA18961, HG00277, HG00103, NA19720, NA12283, NA19328, HG01383, NA20813, NA19789, HG00236, NA19777, HG00120, NA19235, HG01094, NA12891, NA20525, NA19138, NA12272, NA20756, HG01095, NA18909, NA18538, NA12413, NA20518, NA12889, NA19431, NA19747, HG00608, HG01390, NA12878, HG00530, NA20317, HG00123, HG00285, NA19225, NA12546, NA18499, NA19371, NA20543, HG01108, NA19315, NA20792, NA19756, NA19346, HG00320, HG00641, HG00473, NA18981, HG00671, NA19087, HG00271, NA19661, HG00126, HG01354, HG00312, HG01515
Known GenesPPP2R5A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671226
Frequency
Sample Size1151
Observed Gain0
Observed Loss776
Observed Complex0
Frequencyn/a


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