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 Variantsessv5504548, essv6497320, essv5745090, essv6408528, essv5806436, essv5937563, essv5576125, essv5682941, essv5560951, essv5600611, essv6194864, essv5943807, essv5818302, essv6154820, essv6342033, essv6122819, essv6171923, essv5863878, essv6586878, essv6502930, essv5961021, essv5944065, essv6455243, essv6505150, essv6483631, essv6180217, essv5688845, essv5653222, essv6471312, essv5783058, essv6505474, essv5903172, essv6178122, essv6518534, essv6325968, essv5783242, essv5969502, essv6293726, essv5900199, essv6324911, essv5421799, essv6175808, essv5850468, essv6358797, essv5451383, essv5748954, essv5730373, essv6123188, essv6379039, essv6119890, essv5762370, essv6126589, essv5643213, essv5872964, essv6515763, essv5743888, essv5752311, essv5725583, essv5727946, essv5918787, essv6499934, essv5869316, essv5993802, essv6468061, essv6541071, essv6133703, essv6425301, essv6506768, essv6295272, essv5502207, essv6188358, essv6510844, essv5980755, essv6061352, essv6121026, essv5981849, essv6479323, essv6417793, essv6335386, essv5658357, essv6287133, essv5993114, essv5629342, essv6559408, essv5902208, essv5876284, essv6557761, essv6531978, essv5863806, essv5407787, essv6084246, essv6235114, essv5564915, essv6469883, essv6363856, essv5841021, essv5483207, essv6482368, essv6353306, essv6344942, essv6413728, essv5489461, essv5655115, essv6551035, essv6521077, essv6204207, essv6514704, essv5859628, essv6029220, essv5880806, essv6205583, essv5678545, essv6591436, essv6304367, essv6496956, essv5684627, essv5959987, essv6267971, essv6296709, essv5763198, essv6411687, essv5704436, essv6036747, essv6046557, essv5867129, essv6145123, essv5844863, essv5613799, essv5632044, essv5467079, essv5936015, essv5844576, essv6082196, essv6150642, essv6555209, essv6397478, essv6590153, essv6358603, essv6569869, essv6492344, essv5574058, essv5705729, essv6344112, essv5464257, essv5731813, essv6276096, essv5502616, essv5668319, essv5895312, essv6012739, essv5969015, essv6218406, essv6006041, essv5473685, essv5831248, essv5996077, essv6361486, essv6497131, essv5778433, essv6281406, essv5677728, essv5864431, essv6115189, essv6029211, essv6462061, essv6309534, essv6386262, essv6073123, essv5670133, essv6486321, essv6545338, essv5742236, essv5722905, essv6162141, essv6375572, essv6354160, essv5518798, essv6093200, essv6574207, essv6156652, essv6411224, essv6365633, essv6419015, essv5686252, essv6398084, essv5848612, essv5545221, essv6331969, essv6097144, essv6449368, essv5859741, essv5698778, essv5572278, essv6557504, essv5746007, essv5675696, essv5772658, essv6029031, essv5620052, essv6056012, essv6118344, essv5995867, essv6371121, essv5603215, essv6470782, essv6419634, essv6582742, essv5732979, essv5750973, essv5947326, essv6062968, essv5743384, essv6003156, essv6590740, essv5789577, essv5545458, essv6191571, essv5872939, essv6471105, essv5735213, essv5491133, essv5700766, essv5829546, essv6032878, essv6521346, essv6173424, essv5714468, essv5888942, essv5930697, essv6135801, essv6080577, essv5972406, essv6496079, essv6037667, essv5991201, essv5952588, essv5597896, essv6382546, essv5963505, essv6456081, essv5508808, essv6241625, essv5674837, essv5998335, essv6428796, essv5419422, essv5530174, essv5421577, essv5860002, essv6482696, essv5612424, essv5478268, essv6278257, essv6412036, essv5789627, essv6286982, essv5867422, essv5947084, essv5511024, essv5632949, essv5502285, essv5486429, essv6095324, essv6015795, essv6077716, essv5737219, essv6023515, essv6013970, essv6300393, essv6153659, essv5689495, essv5480708, essv6029689, essv6541152, essv6521122, essv6527600, essv5932299, essv6068444, essv5741149, essv5642480, essv6468810, essv5841004, essv5853434, essv6597503, essv6567114, essv5939039, essv5690552, essv6300305, essv5649278, essv5673878, essv5517107, essv6403028, essv6341747, essv6186854, essv5618384, essv6596524, essv5714681, essv5613849, essv6554538, essv6363705, essv6066112, essv6290575, essv6216417, essv6205446, essv5512660, essv6059765, essv5431598, essv5862453, essv5435000, essv6236746, essv5662469, essv5516917, essv6495149, essv5483298, essv5873263, essv5563811, essv6572429, essv5692460, essv5591210, essv6314388, essv5714299, essv6312079, essv5672314, essv6084305, essv6301224, essv5525893, essv6290703, essv5875431, essv6104575, essv6416778, essv6141759, essv6559741, essv6346744, essv6583258, essv6072272, essv5653448, essv6249408, essv5852072, essv6253889, essv6320100, essv5989593, essv5752062, essv5525145, essv5562845, essv6166809, essv5508734, essv6311995, essv5657632, essv5640693, essv6126721, essv6165602, essv6317493, essv6535009, essv6413117, essv5623311, essv5541438, essv5889130, essv6331715, essv6196422, essv6276883, essv6560158, essv6042561, essv5697016, essv6433169, essv6085265, essv6175819, essv5937300, essv6265634, essv6445699, essv5793676, essv6184795, essv6460047, essv5841011, essv6214408, essv5802505, essv6006401, essv6361009, essv5932017, essv6024343, essv5574935, essv6133612, essv5755581, essv5477776, essv6500125, essv6169464, essv5720786, essv5885104
SamplesNA19394, NA12383, HG00650, HG00542, NA12717, HG01173, NA19703, NA19909, NA18621, NA12286, HG00242, NA19204, NA10851, NA12414, NA11920, NA11931, HG00257, HG01066, HG00315, NA20816, NA20802, HG00244, NA19350, NA12751, NA18504, NA18633, HG00261, NA20771, NA12750, NA18988, HG00337, NA19107, NA20814, NA18563, HG00138, HG01350, HG00272, NA19319, NA20589, HG01351, NA20774, NA20756, NA18567, NA20795, NA18558, NA18960, NA18574, NA11918, NA18582, NA18571, HG01083, HG01365, HG00334, NA20287, NA19384, HG00311, NA18949, NA11930, HG00512, HG00281, NA20539, HG01069, NA19720, HG01080, HG00335, NA20775, NA12156, NA20812, HG00325, NA11994, NA19172, NA18990, HG01198, NA19239, HG01048, HG00326, HG00253, NA19789, NA19921, HG00137, HG00154, NA18605, NA19908, NA12489, NA20800, HG00443, HG01171, HG00282, NA19056, NA19670, NA19403, HG00557, NA12878, NA18933, HG00732, NA20810, NA20314, NA19663, HG00344, HG01498, HG00275, NA18579, NA12718, NA20519, NA18572, NA18534, HG00551, HG00692, NA19064, NA18907, NA18537, NA20525, NA19654, NA12829, NA11893, HG00331, HG00684, NA18532, HG01101, HG00140, HG01334, NA19761, NA19009, NA18555, HG00152, NA19452, NA18523, HG00463, NA12778, HG00246, NA18570, HG00126, NA18858, NA18593, NA19012, NA18974, NA12043, NA18953, HG01148, HG00254, HG00336, NA18517, NA19712, NA19434, NA18564, HG00353, NA19072, NA19444, NA20520, HG01357, NA20527, HG01375, HG00237, NA19428, NA19324, NA20544, HG00116, NA19083, NA18943, NA12763, HG00662, HG00620, NA06994, HG00513, NA18631, NA19779, NA18609, HG00310, NA18873, HG00280, NA19116, NA20826, NA19780, NA19900, NA20503, NA18989, NA11892, HG01125, NA18968, NA18624, NA12890, NA19463, NA18623, NA20585, NA19063, NA20754, NA19346, HG00581, NA20772, HG01060, HG01441, NA11830, HG00536, NA19397, HG00249, NA11829, HG01052, HG00187, NA18980, HG01079, NA18561, NA20531, NA18599, HG01374, NA20813, NA20532, NA18917, HG00318, NA19092, NA18486, HG00103, NA19819, NA12004, NA18596, NA12058, NA18606, HG00179, NA20346, NA20507, NA18870, NA18526, NA12400, NA07357, NA12413, NA19068, NA19746, NA19396, NA20796, NA18550, HG01366, HG01070, NA18595, HG00689, HG00448, HG00173, NA18635, NA18619, NA12891, NA12348, HG00736, NA11992, NA12283, NA20540, NA19313, NA19138, NA18964, NA18611, NA12761, HG01134, HG00277, NA12005, NA19383, NA20819, HG01170, HG00236, HG00262, NA20340, NA19371, NA18560, NA19731, NA18617, NA18986, HG00309, HG00427, NA19901, NA18520, HG00159, NA19445, NA20533, NA18908, NA18973, NA18638, NA12748, NA11993, HG00108, HG00260, NA19007, NA11831, NA10847, HG00313, HG01183, HG00188, NA19210, NA18613, HG00629, NA19657, HG00183, NA20787, HG00145, HG01384, HG00328, NA19077, NA12003, HG00190, NA20809, HG00577, NA18956, NA20536, HG00436, NA20506, NA18976, NA20770, HG00708, NA18566, HG00273, NA19114, NA20299, NA19774, NA19000, NA20538, NA18856, NA12892, HG00117, HG00525, HG00321, NA18853, NA19257, NA19225, NA06985, NA20828, NA18536, NA20542, HG01204, NA20765, NA20773, NA20801, HG00119, NA18909, NA11881, HG00285, NA19108, NA18952, NA18543, NA18559, HG00565, HG00357, NA18941, NA20804, NA19240, HG00278, NA19144, NA07051, NA20785, HG00308, NA19439, NA19467, HG01108, NA20803, HG00256, NA19085, NA06986, HG00125, NA19818, NA19376, NA19078, HG00707, HG00672, HG00111, NA18971, HG01491, HG00312, NA20582, NA19472, HG00421, HG00329, NA19713, HG01055, HG00174, HG00123, NA20807, HG00131, NA19213, NA18972, HG00343, NA20528, NA18984, HG00472, NA18505, HG01378, NA18488, NA19758, HG00345, NA07000, NA18549, NA18622, NA19153, NA18562
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


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer