A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657453



Internal ID9576872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:88747321..88747649hg38UCSC Ensembl
chr5:88043138..88043466hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg38329
hg19329
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5473512, essv5818931, essv5412723, essv5573496, essv6454756, essv5440818, essv6135952, essv6391080, essv5849543, essv5419802, essv6590165, essv5943493, essv5832110, essv5900681, essv6498073, essv6212920, essv6509335, essv6287433, essv5450799, essv5780191, essv6077967, essv5531677, essv5674465, essv5765035, essv5681236, essv5915923, essv6156443, essv5499285, essv6017364, essv5950140, essv5753893, essv5454009, essv5434711, essv5631882, essv5575778, essv5966307, essv6414104, essv5938476, essv6391154, essv5502006, essv5518189, essv5826109, essv6389822, essv5858568, essv5416874, essv5919727, essv6234140, essv6197998, essv5651324, essv6338854, essv5473558, essv6020142, essv5545509, essv6173774, essv5573341, essv5586639, essv5839655, essv5897498, essv6095621, essv6205728, essv6146552, essv6479364, essv5978365, essv6326806, essv5612099, essv5846241, essv6249639, essv6506289, essv6562451, essv5520373, essv5895040, essv6583021, essv5639467, essv5961897, essv6017343, essv5723220, essv6342662, essv6379378, essv6234995, essv6128668, essv6328438, essv5900280, essv5867618, essv6267232, essv6137984, essv6279231, essv6210328, essv5898553, essv5820101, essv6540583, essv5683226, essv6171771, essv6404373, essv5975014, essv6275411, essv6280216, essv5591802, essv6204637, essv6159288, essv5643308, essv6016952, essv6487734, essv6021468, essv6064156, essv6302710, essv6526684, essv6191148, essv5845923, essv6253914, essv5649456, essv5844235, essv6125679, essv6277559, essv6498665, essv6095914, essv6354020, essv5680140, essv5606249, essv6084804, essv5508194, essv6123304, essv5511863, essv6162832, essv6105532, essv6329809, essv5462994, essv6067773, essv5459506, essv5501001, essv5721826, essv5737052, essv5860243, essv6331309, essv6221910, essv6473826, essv5596804, essv5971242, essv6295620, essv6082178, essv6235979, essv6539638, essv5568843, essv5825139, essv5471942, essv6395345, essv5693084, essv6025137, essv6116721, essv5647219, essv6173873, essv6413176, essv6505356, essv6572844, essv5528933, essv5691248, essv6296474, essv5891762, essv6557898, essv5466452, essv6259812, essv6510073, essv5965575, essv5657670, essv5766599, essv6001119, essv5472343, essv5691420, essv5570411, essv6038466, essv6442550, essv6378575, essv6389627, essv5868937, essv6456402, essv6501935, essv5476067, essv5959882, essv6050021, essv6416412, essv5562934, essv6246523, essv5836555, essv6346808, essv5403361, essv5938092, essv6363471, essv6153022, essv5904236, essv6337982, essv6365895, essv5871352, essv5900043, essv5788648, essv5789653, essv6205982, essv5485039, essv5958300, essv6389886, essv6298217, essv5841472, essv5884731, essv5600904, essv5719160, essv6555264, essv6070542, essv6372478, essv5437552, essv5545171, essv6368112, essv5697869, essv6231736, essv6263915, essv6526347, essv6010932, essv6281097, essv6074683, essv5678292, essv6234875, essv5693660, essv6104713, essv5419850, essv5739577, essv5870282, essv6316369, essv6195271, essv6565613, essv6144753, essv6271728, essv5516843, essv6228628, essv6146116, essv5542822, essv5677485, essv5546059, essv5504215, essv5900064, essv6551865, essv5467808, essv6166479, essv5835583, essv6051706, essv5919419, essv6205126, essv6411314, essv5593398, essv6276929, essv5528472, essv5977343, essv5892866, essv6301129, essv6569940, essv5709695, essv5441812, essv6194476, essv6328022, essv5470575, essv6253670, essv5653913, essv5517923, essv6355057, essv6089327, essv6404079, essv5857949, essv6046994, essv6393862, essv5585046, essv5789308, essv5939443, essv6294823, essv5826429, essv5769994, essv6257788, essv5952920, essv6205284, essv5921414, essv6275105, essv5458854, essv6133562, essv6511103, essv6567636, essv5653128, essv5722829, essv5980767, essv6034485, essv6378360, essv6543386, essv5496258, essv5565396, essv6338577, essv5580518, essv6065458, essv6583054, essv5835285, essv5853957, essv5588132, essv6084874, essv5515837, essv5937008, essv5880917, essv6475802, essv5655031, essv5955862, essv6124930, essv6169682, essv6073434, essv6290104, essv5435074, essv5569521, essv5890905, essv6122376, essv6136864, essv5770604, essv5435533, essv5634539, essv6131842, essv6577690, essv5498748, essv6189781, essv6268836, essv6028413, essv5600747, essv5698052, essv5708629, essv5879208, essv6290337, essv5828523, essv6465231, essv5884575, essv6433423, essv6483602, essv6139952, essv6293070, essv5667190, essv6006340, essv6376265, essv6444028, essv6275985, essv5444445, essv6234460, essv5460927, essv5669962, essv5582591, essv5814155, essv6552868, essv6585863, essv5396691, essv6205231, essv5440306, essv5473046, essv5529843, essv6104279, essv5496625, essv5463712, essv5651623, essv6370688, essv5695410, essv5961568, essv5856882, essv5879370, essv6499061, essv5527108, essv5572728, essv5560727, essv6245560, essv6352900, essv5840038, essv5965955, essv6450598, essv5498837, essv5633408, essv5415845, essv6423553, essv6314311, essv6413347, essv5661706, essv5994569, essv6078114, essv6210189, essv5714032, essv6060535, essv6479079, essv5503223, essv6066166, essv6411889, essv6426313, essv5585316, essv5981830, essv5995996, essv6276854, essv5950021, essv6339654, essv6326920, essv5710708, essv5741499, essv6401317, essv5733342, essv5618905, essv5413774, essv6242324, essv6510032, essv6568529, essv5470960, essv5648067, essv6029244, essv5742297, essv6023057, essv6133054, essv6191027, essv6243906, essv6502813, essv6436935, essv6594439, essv6424098, essv5402008, essv6523577, essv5994198, essv5424817, essv6506008, essv5558709, essv5587009, essv5881843, essv6130381, essv6208538, essv6283559, essv5452918, essv6167052, essv5897117, essv5807527, essv5561830, essv5776935, essv6412636, essv5510241, essv5537810, essv6181579, essv6576694, essv6300729, essv6303557, essv5664320, essv6587737, essv6188359, essv6220126, essv6246748, essv5643180, essv5920794, essv5475568, essv5766526, essv5876202, essv5774333, essv6316309, essv6122237, essv5747024, essv6325770, essv5493223, essv6265393, essv6524283, essv5413345, essv6402783, essv5640772, essv5541388, essv5607376, essv5928147, essv5808174, essv5818929, essv5966236, essv5971851, essv5681402, essv6455362, essv6518841, essv5447479, essv5560889, essv5785450, essv5952248, essv6038698, essv6231368, essv5953466, essv6105800, essv5562267, essv6273697, essv6438089, essv6576444, essv6153877, essv6132953, essv6170325, essv5809685, essv5745224, essv6472077, essv6139777, essv6481567, essv5774559, essv5714795, essv5803117, essv5940442, essv6375891, essv6252324, essv6411063, essv5469581, essv5784973, essv6241490, essv6558008, essv5489119, essv6290841, essv5665190, essv5775242, essv6408714, essv6015743, essv5614982, essv6430973, essv5666184, essv5608637, essv6017550, essv6154366, essv5501824, essv5539917, essv5600544, essv6342525, essv5520345, essv6213472, essv5644492, essv5640878, essv6194675, essv6218469, essv6558363, essv5550554, essv5866122, essv6578393, essv6459718, essv5548130, essv5505592, essv5422083, essv5589812, essv6446637, essv6587749, essv6370191, essv6186249, essv5944768, essv5572727, essv5493595, essv5886831, essv6427776, essv5975659, essv5424717, essv5539683, essv6468042, essv5709389, essv5737623, essv5434625, essv5591017, essv5680777, essv6593432, essv5594177, essv5942248, essv6418284, essv6586635, essv6597129, essv5482386, essv5538374, essv5504520, essv5504517, essv6316738, essv5718502, essv6210890, essv5683588, essv5854539, essv6137544, essv6270390, essv6583670, essv6353219, essv6452793, essv6543433, essv5574450, essv6013991, essv6277319, essv6392964, essv6482419, essv5780917, essv6464644, essv5475027, essv5938595, essv5604679, essv5833063, essv5706319, essv5757615, essv5790455, essv5971953, essv6222691, essv5635080, essv5742326, essv5594986, essv6406683, essv5590312, essv5932691, essv5515255, essv5744760, essv6491274, essv5812276, essv6285226, essv5622365, essv6123265, essv5916972, essv6175043, essv5434119, essv5612442, essv5546759, essv5729946, essv5837125, essv5864838, essv5643571, essv5485049, essv5588831, essv6125496, essv5541817, essv5415044, essv6098976, essv6265227, essv5626702, essv6236916, essv6472775, essv6580842, essv6018898, essv5642404, essv5469907, essv6384788, essv6462443, essv6203096, essv6459221, essv6247149, essv5943247, essv6048577, essv6300979, essv5508915, essv5940184, essv6283349, essv6128722, essv6371451, essv5516523, essv5498109, essv5487519, essv5520366, essv6261209, essv6308966, essv6189864, essv5725982, essv5737513, essv5416782, essv6014887, essv5822068, essv5783752, essv6488482, essv6136965, essv5401499, essv6163901, essv5567298, essv6080313, essv6494341, essv6230185, essv6400131, essv5940203, essv5848665, essv5667411, essv5500988, essv6460808
SamplesHG00613, HG01441, HG00380, NA18870, NA12154, HG01440, HG00257, NA18951, NA18530, NA18535, NA18871, NA12286, HG00551, HG00328, NA18523, HG00705, HG00437, HG00500, HG00112, HG00274, HG00186, HG00464, NA12347, NA19093, HG00131, NA20796, HG00565, NA19311, NA11918, NA19469, NA19435, HG01389, HG00463, NA18516, HG01365, HG00189, HG00577, NA19788, NA19331, NA19453, NA20800, NA18953, HG01488, NA18517, HG00542, HG00739, NA18541, HG01167, NA12058, HG00683, NA20805, HG00334, HG00581, NA19685, HG00187, HG00404, HG00335, NA19701, NA19236, NA20322, NA18505, NA20803, HG00353, NA18868, HG00554, HG00158, HG00556, HG01148, NA11919, NA12763, NA18627, NA19076, HG01375, HG00421, NA12004, HG00259, NA19197, NA19443, NA18623, HG01048, NA20530, NA18990, NA18636, HG01124, NA18592, NA19083, NA19088, NA12273, HG00315, NA12761, NA18956, HG00338, NA18959, HG00533, NA11894, NA12400, NA18637, NA20520, HG01253, HG00243, HG00284, NA19457, HG00343, NA12144, HG00662, NA19190, NA19000, NA19055, HG00306, NA19360, NA19725, HG00267, HG01097, HG01465, NA19129, HG00233, NA19372, HG00653, HG01191, NA19374, NA20760, HG00732, NA12778, NA19384, HG00325, NA19716, NA20795, NA18986, HG00263, NA20753, NA12275, NA18510, HG00176, NA19002, HG00265, HG00672, HG01069, HG00249, NA18961, HG00277, HG00103, HG01080, HG01351, NA20815, HG00740, NA20542, HG00534, NA20766, HG00525, NA12283, NA18910, HG01383, HG00377, NA19711, NA20813, HG00236, HG00120, NA18940, NA19235, HG01094, NA18619, NA18987, NA12890, NA20525, HG00427, HG01137, NA18597, NA19376, NA12272, NA19391, NA19723, NA18538, NA12413, NA20518, NA12889, NA18631, NA19747, HG00118, NA18544, NA19755, HG00608, HG00654, HG01390, NA18614, HG00530, NA18548, NA20317, NA11830, HG00123, HG00144, HG00285, NA19225, NA12546, HG00142, HG01366, NA18499, NA19732, NA20543, HG00708, HG01108, NA18610, NA12045, NA11932, HG00566, NA11829, NA19756, NA19346, HG00320, HG00625, HG00690, NA12717, HG00183, HG00473, NA20804, HG00626, HG01377, HG00671, HG00702, HG00704, HG00271, NA19661, NA19779, HG00126, HG00531, HG01354, NA18553, HG00312, HG00327, HG00323, NA20281, NA12827, NA12718, HG00313, NA12043, NA19625, HG00734, HG01359, NA12249, NA19436, HG00318, HG00536, HG00607, NA12750, NA12748, NA11930, NA07037, NA20522, NA20278, NA20809, HG01250, NA20503, HG00344, HG01072, NA20785, HG01052, HG00100, HG01075, NA18561, NA19404, HG00127, HG01055, NA18952, HG00145, NA07056, HG01342, NA20516, HG00369, NA18612, HG00731, HG00245, HG00596, NA19783, HG00736, NA20508, HG00449, NA19060, HG00310, NA18550, NA18570, NA19003, NA19072, HG00261, HG00707, NA18511, NA06989, NA12340, NA20802, NA18948, NA11931, NA20808, HG01492, NA20529, NA19010, HG00375, NA20342, HG00173, HG00326, HG01491, NA18608, NA20778, NA20786, NA18542, NA19782, HG00270, HG00553, NA19461, HG00122, HG00106, HG00701, NA19834, NA20588, HG01188, HG01204, NA12776, HG00651, NA19004, NA19678, HG00557, HG00366, NA19108, HG00331, HG00146, NA18488, NA19780, NA18873, NA19147, HG00188, NA18626, HG00479, HG00247, HG01133, HG01521, NA18632, NA20770, HG00342, HG00244, HG00266, HG00635, NA19762, HG00115, HG00543, HG00154, NA18559, HG00321, HG00339, NA19726, NA19067, NA19428, NA20585, NA18912, NA19383, NA12843, NA18624, HG00179, HG00250, HG01140, NA19054, NA12282, NA20515, HG00472, HG00583, NA18566, HG00337, NA11994, NA19068, HG00140, HG00638, NA12155, NA18576, HG00180, NA18563, NA07357, NA19900, NA20504, NA20757, NA19722, HG00610, HG00231, HG00372, HG01495, NA18991, NA20801, HG01047, HG00689, NA19396, HG00141, HG00628, NA19397, HG00330, NA07048, NA18638, NA19398, NA19066, NA11933, NA20541, HG00150, HG00178, HG00419, HG00258, NA12829, HG01113, HG01136, NA20282, NA20336, NA19773, HG00637, NA18982, NA19681, HG00254, HG00403, NA12830, HG00357, NA18634, NA20589, HG00237, HG00584, NA19684, HG00133, NA18539, NA19676, HG00436, HG00159, HG00620, HG00124, NA12046, HG00108, NA18537, NA18620, NA19172, NA19703, HG00268, HG01066, NA19393, NA20126, NA20512, HG00629, NA18498, NA18486, NA06986, NA18522, NA20344, HG00260, HG00560, NA19713, NA20540, HG01073, HG00239, NA18941, NA19901, HG00273, HG00282, HG00232, HG01356, NA20814, NA20818, HG00478, NA18564, NA18858, HG00116, NA20828, NA19332, NA19909, NA20582, HG01070, NA19707, NA19074, HG01060, NA19382, NA18579, NA18985, HG00589, NA18945, NA18606, NA18543, HG00151, NA10851, NA18582, HG00590, HG00595, NA18552, HG00443, NA18599, NA18567, NA19078, HG00611, NA20332, NA20799, HG00650, NA06984, NA18867, NA19394, NA19403, NA18565, HG00138, HG00663, NA12156, NA18560, NA18989, HG00580, HG01112, NA19719, NA19434, HG00448, NA18602, NA18577, NA19099, NA19446, NA20509, NA19649, NA20507, NA20513, NA18533, NA11992, NA12003, NA19064, NA19770, NA19749, HG00281, NA12399, NA19717, HG00656, NA12842, NA18571, HG00422, NA19070, NA19470, HG00693, NA18611, HG01125, HG00251, NA20768, HG00324, NA20528, NA18549, NA18574, NA18853, HG00442, HG01522, HG00137, HG01102, HG01462, HG01489, NA19079, NA19381, HG00684, HG00143, HG01110, NA19758, HG00336, NA19448, NA20502, HG00272, HG00345, NA19468, NA19750, NA19007, NA20519, HG00136, NA19065, NA07000, NA12775, NA19058, NA18980, HG00361, HG01198, NA19012, NA11881, NA18621, HG00309, NA12489, HG00537, HG00252, NA18605, NA07347, NA19712, NA18616, NA20771, HG00182, NA19904, NA20527, HG00619, NA18534, HG01353, NA18630, HG00418, NA19819, NA19437, NA19114, NA11920, HG00171, HG01083, NA20510, NA18501, NA18526, NA20535, NA20531, HG00160, NA10847, NA18545, NA18603, HG01197, HG00657, HG00614, NA12828, HG00475, HG01174, HG00148, NA19920, HG01350, NA12005, NA18489, NA20539, HG00698, NA18963, NA07051, NA19651, HG00280, HG01134, HG00177, HG00319, HG00737, HG00253, HG00699, NA18557, NA12287, NA20521, NA18943, NA18596, NA18628, NA20340, HG00269, HG00592, NA12414, NA19077, NA19062, NA19463, HG00242, NA19085, HG00346, HG00593, NA19390, HG01378, NA19917, NA18536, NA18622, NA18617, HG01183, HG00149, HG00125, NA11995, HG00174, HG00634, HG00276, NA12777, NA12751, HG00373, NA19380, HG01437, NA19786, NA19080, NA12716
Known GenesMEF2C
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657453
Frequency
Sample Size1151
Observed Gain0
Observed Loss661
Observed Complex0
Frequencyn/a


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