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 Variantsessv6593432, essv5643571, essv5562934, essv5415845, essv6159288, essv6028413, essv5780917, essv6460808, essv6418284, essv5573496, essv6236916, essv6197998, essv6586635, essv5591802, essv6181579, essv6300729, essv5674465, essv5723220, essv5499285, essv5944768, essv5585046, essv5473046, essv5435533, essv6186249, essv5803117, essv6371451, essv6302710, essv5516523, essv5867618, essv5714032, essv5614982, essv5472343, essv5928147, essv5635080, essv6338577, essv5655031, essv5633408, essv5900681, essv5589812, essv5820101, essv5971851, essv6023057, essv5921414, essv6400131, essv6130381, essv5733342, essv5737623, essv5469907, essv6543386, essv5977343, essv5586639, essv6494341, essv6218469, essv6273697, essv6122237, essv6021468, essv5667190, essv6331309, essv5900280, essv6144753, essv5807527, essv5826429, essv5832110, essv5496625, essv6572844, essv5789308, essv6393862, essv6379378, essv5437552, essv5665190, essv6365895, essv6267232, essv6051706, essv6378575, essv6189781, essv6265393, essv5971242, essv5642404, essv5950140, essv6010932, essv6325770, essv5737052, essv6167052, essv6077967, essv6171771, essv6577690, essv6482419, essv5981830, essv5706319, essv5608637, essv6095914, essv6034485, essv5644492, essv5897117, essv6475802, essv6038698, essv5503223, essv5939443, essv5718502, essv5462994, essv6146116, essv5938092, essv5876202, essv6132953, essv5501001, essv5424817, essv5680140, essv6084804, essv5573341, essv5683226, essv6473826, essv6368112, essv6139952, essv5886831, essv6506008, essv6231736, essv5485049, essv6275985, essv6048577, essv6510032, essv5837125, essv5725982, essv5562267, essv5693084, essv5841472, essv5452918, essv5419802, essv5500988, essv6245560, essv6472077, essv6270390, essv5498748, essv6413347, essv6587749, essv5529843, essv6587737, essv5606249, essv6017343, essv5780191, essv5587009, essv6316369, essv6295620, essv5940442, essv5590312, essv5580518, essv5618905, essv6259812, essv6082178, essv5691248, essv5458854, essv5440818, essv6326806, essv6303557, essv5958300, essv5612442, essv5622365, essv5822068, essv6230185, essv5788648, essv6539638, essv6454756, essv6210189, essv6583021, essv5401499, essv6234875, essv5570411, essv6013991, essv6491274, essv5919727, essv5826109, essv5745224, essv5920794, essv6501935, essv6277559, essv6414104, essv5434711, essv5498109, essv5722829, essv5710708, essv5943247, essv5766599, essv5604679, essv5965955, essv5884731, essv6170325, essv5683588, essv5915923, essv6438089, essv5769994, essv5892866, essv5561830, essv6316309, essv6455362, essv6271728, essv5520345, essv6487734, essv5870282, essv6510073, essv6265227, essv5744760, essv5643180, essv5809685, essv5879370, essv6014887, essv5498837, essv5600747, essv6404373, essv5858568, essv6511103, essv5900043, essv5585316, essv5575778, essv6329809, essv6585863, essv5890905, essv5518189, essv6128722, essv5790455, essv5517923, essv6205231, essv6194675, essv6276854, essv6346808, essv5568843, essv5639467, essv6339654, essv6296474, essv6173873, essv5940184, essv6235979, essv5467808, essv6526347, essv6509335, essv6459718, essv6169682, essv6194476, essv6389822, essv5828523, essv5508194, essv6213472, essv5880917, essv6384788, essv5714795, essv6123304, essv5634539, essv6583670, essv5569521, essv5482386, essv5980767, essv6038466, essv6464644, essv5681402, essv5594177, essv5545171, essv6104279, essv5516843, essv5643308, essv6483602, essv6502813, essv5541817, essv6257788, essv5493595, essv5965575, essv6597129, essv6558008, essv5413345, essv6555264, essv6363471, essv6580842, essv6426313, essv6412636, essv6137984, essv6066166, essv5473512, essv6567636, essv5640772, essv5868937, essv5698052, essv6423553, essv5784973, essv5558709, essv6578393, essv6074683, essv6162832, essv6139777, essv5546059, essv6472775, essv5541388, essv5419850, essv6020142, essv5940203, essv5680777, essv5853957, essv6481567, essv5582591, essv5434119, essv6205284, essv6462443, essv6391154, essv6352900, essv5669962, essv5612099, essv6125679, essv6137544, essv5501824, essv5459506, essv5966307, essv6370688, essv5708629, essv6247149, essv5747024, essv5845923, essv5849543, essv5424717, essv5515255, essv6234140, essv5560889, essv6565613, essv6290841, essv6558363, essv5938476, essv5444445, essv5572728, essv5508915, essv6408714, essv5721826, essv6436935, essv6370191, essv5975659, essv6105800, essv6294823, essv5515837, essv6342525, essv6283559, essv5538374, essv6277319, essv5470960, essv5441812, essv5640878, essv5953466, essv6499061, essv6222691, essv5664320, essv6411063, essv5895040, essv5785450, essv6298217, essv6569940, essv5463712, essv6124930, essv5952920, essv6175043, essv5871352, essv5440306, essv5952248, essv5897498, essv5653913, essv5528472, essv5765035, essv6424098, essv6452793, essv5833063, essv5649456, essv6468042, essv6576694, essv6133054, essv6316738, essv6268836, essv5537810, essv5916972, essv5657670, essv5454009, essv5866122, essv6154366, essv6029244, essv6133562, essv5881843, essv5594986, essv6243906, essv5593398, essv6098976, essv5539917, essv6583054, essv6450598, essv6221910, essv6338854, essv6089327, essv5447479, essv5527108, essv6479079, essv6287433, essv5466452, essv5475027, essv5489119, essv6293070, essv6128668, essv5505592, essv6263915, essv5403361, essv6261209, essv5856882, essv6376265, essv6372478, essv5825139, essv5808174, essv5560727, essv5774333, essv6016952, essv5565396, essv5770604, essv6135952, essv6430973, essv5898553, essv6375891, essv5776935, essv6246748, essv6252324, essv5709389, essv5485039, essv6433423, essv5857949, essv5473558, essv6249639, essv6006340, essv6136965, essv5520366, essv6401317, essv5766526, essv5753893, essv5938595, essv5848665, essv6122376, essv6506289, essv6413176, essv6551865, essv6078114, essv5971953, essv5504517, essv6446637, essv6153022, essv5950021, essv6518841, essv6136864, essv6395345, essv6479364, essv5994569, essv5647219, essv5839655, essv5742297, essv5476067, essv5846241, essv6524283, essv6526684, essv5961897, essv5900064, essv5528933, essv6459221, essv5487519, essv6568529, essv5542822, essv6337982, essv5994198, essv6505356, essv5818931, essv5840038, essv5470575, essv5631882, essv6095621, essv5955862, essv5891762, essv5493223, essv6402783, essv6228628, essv5835285, essv5567298, essv6543433, essv6498665, essv5572727, essv6280216, essv5719160, essv6195271, essv6073434, essv5995996, essv5737513, essv5661706, essv6444028, essv5693660, essv6416412, essv6173774, essv5904236, essv5975014, essv6208538, essv6018898, essv5937008, essv6234995, essv5774559, essv6488482, essv6241490, essv5789653, essv5504215, essv5814155, essv6326920, essv5422083, essv5860243, essv6191148, essv5588831, essv6406683, essv5415044, essv6276929, essv6246523, essv6105532, essv5450799, essv5502006, essv6163901, essv5739577, essv5550554, essv5775242, essv5884575, essv5469581, essv6378360, essv5678292, essv6123265, essv5520373, essv6210890, essv6353219, essv6131842, essv5653128, essv6540583, essv6204637, essv5574450, essv5741499, essv6290337, essv5919419, essv6064156, essv5709695, essv6275105, essv6116721, essv5545509, essv5864838, essv5548130, essv5531677, essv6590165, essv5835583, essv5600544, essv6125496, essv5416782, essv5471942, essv5435074, essv6220126, essv5681236, essv6300979, essv6065458, essv6050021, essv6025137, essv6210328, essv5818929, essv6314311, essv6301129, essv5413774, essv5504520, essv6017364, essv6191027, essv5651623, essv5648067, essv6342662, essv6275411, essv5691420, essv5666184, essv6328438, essv6442550, essv6355057, essv5959882, essv6308966, essv5460927, essv6392964, essv5812276, essv5402008, essv5396691, essv6557898, essv6046994, essv6498073, essv6411889, essv5836555, essv6166479, essv6283349, essv5496258, essv6242324, essv6594439, essv6562451, essv6456402, essv5695410, essv5943493, essv6205728, essv6354020, essv6146552, essv6015743, essv5607376, essv6253670, essv6465231, essv6080313, essv5416874, essv6017550, essv6391080, essv6404079, essv6001119, essv6067773, essv6576444, essv6231368, essv5667411, essv5539683, essv5626702, essv6290104, essv5677485, essv6188359, essv5879208, essv5783752, essv5978365, essv5511863, essv5434625, essv6060535, essv5412723, essv6523577, essv6212920, essv5591017, essv6427776, essv6328022, essv5697869, essv6153877, essv5757615, essv6253914, essv6203096, essv6389627, essv6084874, essv5966236, essv6189864, essv5510241, essv6552868, essv5546759, essv5596804, essv5651324, essv5742326, essv6281097, essv6070542, essv6156443, essv5942248, essv5600904, essv5729946, essv6104713, essv5475568, essv6285226, essv6205126, essv6389886, essv5932691, essv6411314, essv5961568, essv5588132, essv6279231, essv6234460, essv6205982, essv5844235, essv5854539
SamplesNA20588, HG00189, HG00650, HG00442, NA19058, NA20529, HG00608, NA18621, HG00142, NA12414, NA12843, NA11920, NA11931, HG00257, HG00151, HG00233, NA20512, NA12751, NA19684, NA18530, NA19920, NA12750, NA19067, HG00337, NA19446, HG00138, HG01350, HG00589, HG00122, NA20589, NA19678, HG01167, NA20795, HG01492, NA18574, NA07048, NA11918, NA18582, NA20768, HG01083, HG01365, NA19384, HG00537, HG00243, NA19079, HG00158, HG00281, HG00335, NA18868, NA19172, NA18985, HG00326, NA20757, HG00323, NA18867, NA20515, HG00137, NA12777, NA18951, NA18605, NA20535, NA12489, HG00731, NA20800, NA18538, HG00266, NA19070, NA20521, HG00657, NA20760, NA19717, HG00344, NA12718, NA20519, NA18948, NA19064, NA18548, NA18537, HG01047, HG01102, HG00690, HG00404, NA12829, HG00331, NA19750, NA19453, NA06989, NA18523, HG00463, NA12778, HG00126, NA19625, NA20799, HG00611, NA18533, HG00336, NA18517, NA19712, NA19434, NA18564, NA18628, HG00580, NA19331, NA20520, NA19010, HG01174, NA19470, NA19428, HG00116, NA19083, NA18943, NA20281, NA19360, NA12763, HG00662, HG01342, NA12347, HG00614, HG00478, NA18631, NA19779, HG00267, NA18873, HG00112, NA19770, HG00377, HG00274, NA20503, HG00595, NA18989, NA19129, HG00628, NA18624, NA19065, NA18612, NA19074, HG01437, HG00581, NA18577, HG00593, HG00626, HG01060, HG01441, HG00592, NA19055, NA19397, NA11995, NA18592, HG01359, HG01052, NA18980, HG00100, NA18561, HG01188, NA11933, NA18599, HG01389, HG00306, NA20813, NA18603, NA12045, HG00699, NA19819, NA12004, NA12058, NA20808, HG00150, NA20507, NA19190, NA18526, NA12400, NA12413, NA19068, HG01250, NA19076, NA18550, HG00251, NA18489, HG00702, HG00689, HG00173, NA19723, HG00330, HG00634, HG00736, HG00610, NA19649, NA19197, HG01354, NA20540, NA12287, HG00247, NA19054, NA18498, NA20513, NA19681, NA20336, HG01110, HG00590, NA20541, NA12761, HG01134, NA12282, HG00277, NA12005, NA19651, HG00120, HG00683, HG00106, HG00236, NA19719, NA20340, NA18560, NA18617, NA12889, HG00182, NA19002, NA19725, HG00637, HG00338, NA12828, HG00178, HG00530, HG00419, NA18638, NA12748, HG00464, HG00108, NA20818, NA19007, HG00543, HG01136, HG00188, HG00149, HG00560, HG00629, HG00183, HG00176, NA19707, NA19077, NA20809, NA19391, NA18991, HG00475, HG00584, HG00500, NA19788, NA18910, NA20770, NA20344, HG01094, NA19000, HG00373, HG01197, NA18499, HG01383, NA18853, NA20282, NA19225, NA20828, NA19756, HG00141, NA18536, NA20542, NA18576, NA19685, NA20801, NA18535, NA11881, NA19834, NA19108, NA18952, NA18543, NA18559, NA12775, NA19749, HG00565, HG00375, NA19732, HG01253, HG00136, HG00638, NA07051, HG00607, NA20504, NA19786, HG00319, HG01108, NA20803, HG00125, NA19376, NA19078, HG00707, HG00672, HG00312, NA20582, NA18987, NA19713, HG00174, NA12830, NA19726, HG00343, NA18552, HG00372, HG00252, HG01377, HG00472, NA07056, NA18505, NA19004, NA20322, HG00345, HG01097, NA18549, HG01191, HG00437, NA20509, NA19394, NA19701, HG00542, NA12717, NA12842, HG00143, NA19703, HG01462, NA19909, NA20766, NA12286, NA20508, HG00671, NA19066, HG00242, NA10851, NA12273, NA18565, HG01066, HG00315, NA20802, HG00244, NA12340, NA20332, NA18959, HG00737, HG00115, NA18616, HG00449, HG00654, NA19443, HG00261, NA20771, NA18510, NA12399, NA18602, HG01522, HG00693, NA18627, HG00271, HG00663, NA20814, NA18563, NA18940, HG00272, NA18597, HG01351, NA18567, NA19062, NA07347, NA19457, NA18571, HG00334, NA19904, NA11930, NA20539, NA12275, HG01069, HG01080, NA20518, NA20278, HG00148, NA12156, HG00325, NA11932, HG00232, NA19372, NA11994, HG00534, NA19235, HG00705, NA19722, HG00160, HG00118, NA18990, HG01198, NA18557, HG01048, HG01133, NA20342, HG00253, NA18539, NA20753, HG01124, HG00154, HG00443, HG00268, HG00380, HG00282, NA19403, HG00557, HG00245, HG00732, HG00556, HG00583, HG00263, NA18579, NA18871, NA18534, HG00551, HG00239, HG00740, NA20525, HG00324, HG00284, NA19461, NA11919, HG00651, HG00250, NA18626, HG00531, HG00479, HG00684, NA18912, HG00140, NA18553, NA19099, HG00144, HG00146, NA18963, HG00704, NA12144, NA19469, NA18570, NA18858, NA12546, NA18541, HG01075, NA19012, NA12043, NA18953, HG01148, NA19003, HG00258, NA18632, HG00254, NA19390, HG00265, NA19147, HG00625, NA19747, HG00353, NA20815, NA19072, NA12272, HG00734, NA20530, NA20527, HG01375, HG00473, NA20778, HG00237, NA19311, HG01113, HG01137, NA19783, HG00418, NA18610, HG01489, HG00620, HG00339, NA18501, HG00259, HG00342, NA19716, NA19468, NA19093, NA20510, NA18636, HG00310, NA20786, HG00280, NA19080, NA19780, NA19711, NA19900, NA20502, HG01125, HG00171, NA12890, NA19463, NA18623, NA20585, NA12154, NA19346, HG00553, NA19676, NA18620, HG00403, NA11830, HG01521, HG01356, NA20543, HG00536, HG00231, HG00249, NA11829, HG00361, HG00187, NA19332, NA20531, HG00318, NA18486, HG01465, HG00103, NA18545, NA19393, NA20805, NA18596, HG00566, NA18606, HG00179, HG00177, NA18870, NA12155, NA07357, HG01140, HG00327, NA19374, NA19396, HG00127, NA19381, NA20796, HG01366, HG01070, NA19382, NA19762, NA19448, HG01488, HG00448, NA18982, NA20317, NA18619, NA11992, HG00346, NA12283, NA19088, HG00369, HG00270, NA19782, NA18611, NA19404, NA19383, NA06984, HG01495, NA19917, HG01072, HG00422, NA18986, HG01440, HG00309, HG00427, NA19901, HG00159, HG00739, HG00260, NA18614, NA10847, HG01353, HG00313, HG00133, HG01183, NA18544, NA19437, HG00596, HG00145, HG00328, NA12003, HG00653, HG00577, NA18956, HG00701, NA19236, NA18516, HG00436, HG00320, HG00533, NA18637, NA20126, NA18630, HG00619, HG00708, HG00635, HG01390, NA18566, HG01073, HG00273, NA19114, NA11894, NA12249, HG00613, HG00525, HG00321, NA12827, HG00276, NA18634, NA18945, HG01204, NA19436, NA18608, HG00124, NA20522, NA18542, NA12716, HG00285, NA18961, HG00366, HG00357, NA19435, NA18941, NA20804, NA19773, NA19380, NA20785, NA12046, NA20516, NA07037, NA19085, NA06986, HG00269, NA19398, HG01491, NA19060, HG00421, HG00656, HG01055, HG00123, HG00186, HG00698, HG00131, NA20528, NA19661, HG01378, NA19755, NA18488, NA19758, NA18511, NA07000, NA18522, HG01112, HG00554, HG00180, NA18622, NA12776
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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