A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677504



Internal ID9596923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:19147209..19147483hg38UCSC Ensembl
chr19:19258018..19258292hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg38275
hg19275
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6456081, essv6590740, essv6554538, essv5752062, essv5745090, essv5743384, essv6320100, essv5603215, essv5873263, essv5969015, essv6191571, essv6471105, essv6569869, essv5860002, essv6061352, essv6433169, essv5872964, essv6003156, essv5947326, essv5862453, essv5793676, essv5932017, essv5572278, essv6249408, essv6325968, essv5668319, essv5900199, essv6344942, essv6145123, essv5859628, essv6468061, essv6180217, essv6121026, essv5564915, essv6029689, essv6312079, essv5662469, essv5991201, essv5902208, essv6119890, essv6346744, essv5502285, essv6184795, essv5511024, essv6510844, essv5778433, essv5752311, essv6175819, essv6062968, essv6445699, essv5725583, essv5653222, essv6085265, essv6541071, essv5789577, essv5491133, essv6449368, essv5755581, essv5675696, essv6468810, essv5473685, essv6497320, essv5889130, essv5783058, essv6068444, essv5689495, essv5772658, essv6417793, essv6363856, essv5655115, essv6295272, essv5690552, essv6361486, essv6344112, essv5737219, essv5972406, essv5407787, essv5692460, essv6497131, essv6084305, essv5467079, essv5735213, essv6300393, essv5863878, essv6186854, essv5658357, essv5743888, essv6416778, essv6403028, essv5867129, essv6265634, essv5421577, essv6545338, essv5576125, essv6097144, essv6398084, essv5806436, essv5698778, essv5853434, essv6460047, essv5762370, essv5722905, essv6012739, essv6059765, essv6135801, essv5688845, essv6397478, essv6006041, essv5632044, essv5937563, essv6411687, essv5512660, essv5895312, essv6518534, essv6095324, essv6196422, essv6363705, essv5618384, essv5574058, essv6341747, essv5748954, essv5649278, essv6521122, essv6235114, essv6023515, essv5525145, essv6165602, essv5502207, essv6499934, essv6425301, essv6586878, essv5629342, essv6551035, essv5993802, essv5937300, essv6036747, essv5480708, essv5989593, essv5727946, essv5686252, essv5802505, essv5700766, essv5591210, essv6419634, essv5640693, essv6218406, essv5944065, essv6583258, essv6506768, essv6150642, essv6032878, essv6153659, essv6413728, essv5996077, essv6166809, essv6413117, essv6496079, essv5885104, essv6495149, essv6046557, essv5980755, essv6419015, essv6515763, essv5613849, essv5903172, essv5888942, essv6066112, essv6236746, essv5720786, essv5632949, essv5872939, essv6126721, essv5844863, essv6521077, essv5876284, essv6118344, essv5841004, essv5818302, essv6597503, essv6582742, essv6037667, essv6084246, essv6029220, essv5829546, essv6162141, essv5483298, essv6574207, essv6502930, essv6382546, essv6013970, essv5704436, essv6123188, essv6471312, essv5545221, essv6276096, essv6293726, essv6214408, essv5620052, essv6560158, essv6572429, essv6514704, essv5678545, essv6093200, essv5508808, essv5670133, essv6253889, essv6371121, essv5741149, essv5850468, essv6412036, essv5705729, essv6541152, essv6133703, essv6462061, essv6505474, essv6267971, essv6358603, essv6304367, essv6029031, essv6056012, essv6567114, essv6178122, essv6301224, essv5864431, essv6557761, essv6375572, essv6505150, essv6479323, essv5541438, essv5731813, essv5875431, essv5653448, essv5998335, essv6287133, essv6154820, essv5880806, essv6590153, essv6205583, essv6531978, essv6115189, essv5419422, essv5672314, essv6486321, essv6469883, essv5963505, essv5502616, essv5518798, essv5574935, essv5939039, essv5684627, essv5486429, essv5750973, essv6042561, essv5697016, essv6173424, essv6073123, essv5673878, essv5613799, essv6358797, essv6596524, essv5959987, essv6175808, essv5831248, essv5969502, essv5464257, essv6290575, essv5993114, essv6024343, essv5961021, essv6171923, essv6527600, essv6126589, essv5859741, essv5844576, essv5421799, essv6555209, essv5789627, essv5517107, essv5562845, essv6455243, essv6317493, essv5508734, essv6077716, essv5545458, essv5435000, essv5431598, essv5869316, essv6361009, essv6354160, essv6241625, essv6029211, essv6500125, essv5612424, essv5677728, essv6104575, essv5746007, essv6188358, essv5742236, essv5936015, essv6470782, essv5943807, essv6331715, essv5674837, essv5563811, essv5657632, essv6204207, essv5763198, essv6331969, essv5783242, essv5530174, essv5930697, essv6122819, essv5932299, essv6482696, essv5560951, essv5525893, essv6482368, essv5451383, essv5642480, essv6324911, essv5732979, essv6156652, essv6365633, essv5867422, essv5714299, essv5516917, essv6141759, essv5682941, essv6082196, essv6483631, essv5714468, essv6559741, essv5947084, essv6296709, essv6072272, essv6335386, essv5600611, essv5623311, essv6278257, essv6133612, essv6311995, essv6276883, essv6015795, essv6496956, essv5643213, essv5841011, essv5504548, essv6557504, essv6535009, essv6286982, essv6216417, essv6428796, essv5597896, essv5995867, essv5714681, essv6314388, essv6169464, essv6080577, essv5477776, essv6205446, essv6194864, essv6408528, essv6521346, essv5952588, essv6591436, essv5848612, essv5478268, essv6342033, essv6281406, essv6309534, essv5730373, essv6559408, essv6379039, essv6353306, essv6492344, essv6006401, essv5489461, essv6290703, essv6386262, essv5863806, essv5483207, essv6411224, essv5981849, essv5841021, essv6300305, essv5852072, essv5918787
SamplesHG01357, HG01441, NA19012, NA11881, NA18621, HG00309, NA18870, NA12489, NA18605, NA20787, NA19712, HG00257, NA18520, NA18595, NA20771, NA20527, NA18534, NA12286, NA19819, HG00551, HG00328, NA18523, NA19114, HG01173, NA11920, HG01083, HG00131, NA20544, NA20796, HG00565, NA18526, NA20531, NA11918, NA20346, HG01079, NA10847, NA19319, HG00463, HG01365, HG00577, NA20800, NA18953, NA18517, HG00542, HG01350, NA12005, NA19144, NA12058, NA20539, HG00111, HG00334, HG00581, HG00187, NA07051, HG00280, HG00335, HG01101, HG01134, NA19257, HG00253, NA18505, NA19472, NA20803, NA18943, NA19761, HG01171, HG00353, NA18596, NA18949, NA20340, NA12414, NA19077, NA19463, HG01148, HG00242, NA12763, NA19085, HG01384, NA19239, HG01375, HG00421, NA12004, HG00308, HG01378, NA18635, NA18536, NA18622, NA18623, HG01048, NA19107, NA19444, NA18617, NA18990, HG00692, HG01183, NA19083, HG00315, NA12761, NA18956, NA19908, NA18609, HG00125, NA11831, NA12400, NA20520, HG00174, NA18593, HG00254, NA19056, NA19663, HG00357, NA20589, HG00237, HG00343, HG00662, NA19324, NA20773, NA12751, NA19000, NA19213, HG00436, HG00159, HG00620, NA19313, NA19153, HG00108, NA18537, NA19172, NA12892, NA18633, NA18572, NA19703, NA20536, HG01066, HG00732, NA06985, NA12778, NA19384, HG00325, HG00629, NA12348, NA20795, NA20826, NA18486, NA18968, NA18986, NA06986, HG00260, NA19657, NA19713, NA19731, NA20540, NA18558, NA18941, HG00672, NA19901, HG00273, HG00282, HG01170, HG01069, NA18504, NA20814, HG00249, NA11892, NA18564, NA18858, HG00116, HG00277, NA20774, NA20828, HG00103, HG01080, HG01351, NA19909, NA18613, HG00513, NA20542, NA20582, NA19720, NA18988, HG00329, HG00512, HG01070, HG00246, HG00525, NA12283, NA18562, HG01060, NA18579, NA20813, NA18974, NA19789, HG00236, NA18606, NA18543, NA12891, NA18619, NA10851, NA12890, NA18582, NA20525, HG00427, NA19921, NA19138, NA19376, NA20756, HG00443, NA18599, NA18907, NA18909, NA18567, NA19078, HG01334, HG00650, NA19394, NA19403, NA12413, NA19009, HG00138, NA12156, NA19116, HG00262, NA18631, NA18560, NA18989, NA20287, NA18971, NA19434, HG00311, HG00448, NA19818, NA12878, NA19452, NA20507, NA11830, NA11992, NA12003, NA19064, NA20810, HG00123, HG00281, HG00285, NA19063, NA19225, NA18917, NA11993, NA20812, HG01366, NA18571, NA19371, HG00708, HG01108, NA18984, NA18611, HG01125, NA11829, NA19240, NA19346, HG00119, HG01498, HG00275, NA12717, NA20528, NA18532, NA18549, NA18574, NA18853, NA19204, HG00183, HG01374, NA19350, HG00137, NA18908, NA20804, HG00684, NA06994, NA19758, HG00336, NA20772, HG00272, HG00345, NA19092, NA20538, NA18555, HG00278, NA19007, NA20519, NA19779, HG00126, NA07000, NA19746, NA18980, NA19439, HG00312, HG01198, NA18964, NA12718, HG00313, NA12043, NA19445, HG00152, HG00318, HG00536, NA12750, NA12748, NA11930, NA20809, NA20503, HG00344, NA20785, HG01052, NA18561, NA20506, NA18933, HG01055, NA18952, HG00145, HG00736, HG00310, NA18550, NA18570, NA19072, HG00261, HG00707, NA20299, NA20802, NA20775, NA19670, NA11931, HG00117, NA18972, NA20816, HG00173, HG00326, HG01491, HG00190, NA19210, HG01204, NA20314, HG00557, NA11893, NA19108, HG00331, NA18488, NA19780, NA19467, NA18873, HG00188, NA19654, HG00256, NA20770, HG00244, NA20532, HG00154, NA18559, HG00321, NA19428, NA20585, NA19383, NA20533, NA18624, HG00179, NA20819, HG00472, NA12383, NA18566, HG00337, NA11994, NA19068, HG00140, NA18960, NA18563, NA07357, NA19900, NA20801, NA20807, HG00689, NA19396, NA20754, NA18856, NA19397, NA18638, NA19774, NA20765, NA12829, NA18976, NA18973
Known GenesMEF2B, MEF2BNB-MEF2B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677504
Frequency
Sample Size1151
Observed Gain0
Observed Loss387
Observed Complex0
Frequencyn/a


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