A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668814



Internal ID9588233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:29691448..29693502hg38UCSC Ensembl
chr12:29844381..29846435hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg382055
hg192055
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv273e199
Supporting Variantsessv6139346, essv5962589, essv6007135, essv6501305, essv6523488, essv5734824, essv5788260, essv5984920, essv6155901, essv6282848, essv6248198, essv6308663, essv5493286, essv5981426, essv6560705, essv5886756, essv5573134, essv6345821, essv6011830, essv5810093, essv5990643, essv6457911, essv5783030, essv5445761, essv6250281, essv5813250, essv6437196, essv5923368, essv6304502, essv6436842, essv6540995, essv5972435, essv6077334, essv5550244, essv5522236, essv6131317, essv6134832, essv6574398, essv5789279, essv5652624, essv6423355, essv5722123, essv6303383, essv6459668, essv5869552, essv6112964, essv5484790, essv6079109, essv6377928, essv6230165, essv5412269, essv6092070, essv5911639, essv5713228, essv5696678, essv5845265, essv5639221, essv6537492, essv5546362, essv5925054, essv5411480, essv6480569, essv6215891, essv5649261, essv5611122, essv5643034, essv5606143, essv5977238, essv6578416, essv6577451, essv6062006, essv5828720, essv6288082, essv6275929, essv5895449, essv5573138, essv5462881, essv6451831, essv6102997, essv6591453, essv6101442, essv6028181, essv5949233, essv6064801, essv5924900, essv5723979, essv5668992, essv5814793, essv5542970, essv5785712, essv6406507, essv6235256, essv5777367, essv5777730, essv6552098, essv6276401, essv5741293, essv5421070, essv6258474, essv6278882, essv5734045, essv5768535, essv5670469, essv5517156, essv6351460, essv6018457, essv5610734, essv5661570, essv5433987, essv6003493, essv6361017, essv5901928, essv6101887, essv6010825, essv6561491, essv5440641, essv6554861, essv5461810, essv6567968, essv5853079, essv6124892, essv5992023, essv6153220, essv5705819, essv6385770, essv6329596, essv6532510, essv6332929, essv6249983, essv5959931, essv5740522, essv5709071, essv6534207, essv5528666, essv6202912, essv6241353, essv5609582, essv5709962, essv5875855, essv5495307, essv5411751, essv6597274, essv5723560, essv5681739, essv5714699, essv6291810, essv6230852, essv5504223, essv5426389, essv5481093, essv6017176, essv5978077, essv5808071, essv5682486, essv6535561, essv5978669, essv6340510, essv5638654, essv6334397, essv6097728, essv5728297, essv6511479, essv5862048, essv5487560, essv6158751, essv6555908, essv6150409, essv6401434, essv6483377, essv5533394, essv6460191, essv6289706, essv5943328, essv5464571, essv5992573, essv6353836, essv5911527, essv6510688, essv6463031, essv6052421, essv6150053, essv6061929, essv5488546, essv5423821, essv6557673, essv5912811, essv6521561, essv6354517, essv5517930, essv6279014, essv5815553, essv5414181, essv5506389, essv6530429, essv6211264, essv5739121, essv6134969, essv6023992, essv6465115, essv6269889, essv6019024, essv5632429, essv5835861, essv6446678, essv6518217, essv5464026, essv5763159, essv5504497, essv6352758, essv6239737, essv6003452, essv5672935, essv5701607, essv6273671, essv5723291, essv6036979, essv6550723, essv6197140, essv6340406, essv6016504, essv5811328, essv6285115, essv6213428, essv5444845, essv5884081, essv5464699, essv6475996, essv5912248, essv5663855, essv5927791, essv6365126, essv5445281, essv5849843, essv6373721, essv6359110, essv6548974, essv6495764, essv6345427, essv5995293, essv6244476, essv6067259, essv5862710, essv5913249, essv5867709, essv6125264, essv6325626, essv6019882, essv5644485, essv6181220, essv5796708, essv5395966, essv6071688, essv5839648, essv6037935, essv6321113, essv5822289, essv6003907, essv6575943, essv6411248, essv6103615, essv5705781, essv6056200, essv6129592, essv6104430, essv6416079, essv5911427, essv5692852, essv5570419, essv6289997, essv6211222, essv6362652, essv5641416, essv5626382, essv5834251, essv6552313, essv6486595, essv5672492, essv5995365, essv5615735, essv5851679, essv5811296, essv6365898, essv5575266, essv5802878, essv6250272, essv5431323, essv6460278, essv5785993, essv5458982, essv5930804, essv5677861, essv5907923, essv6589666, essv5406622, essv5557710, essv5594499, essv6113631, essv6193625, essv5917351, essv5571970, essv6201225, essv5534669, essv6013862, essv5732134, essv5616926, essv5409316, essv5825576, essv6031928, essv5565465, essv6082400, essv5420440, essv5686774, essv6373228, essv6035100, essv5880866, essv5961622, essv5958783, essv6486604, essv5802339, essv5548983, essv5679165, essv5819402, essv6026524, essv5864735, essv6120972, essv5556737, essv6246697, essv5745799, essv6148152, essv6134541, essv5792028, essv5953231, essv5561225, essv6191240, essv5445016, essv6499426, essv5806781, essv5810513, essv6102672, essv5422814, essv6342198
SamplesHG00189, HG00650, HG00542, NA12717, HG00143, HG01462, HG00608, NA20508, HG00671, NA19066, HG00559, NA18565, NA18999, NA19350, NA19359, HG00153, NA12340, NA19377, NA18530, HG00449, NA20517, NA19443, HG01051, NA18633, NA20771, NA19067, NA18988, HG00337, HG00271, NA19107, HG00663, NA20814, NA07346, HG01350, HG00589, NA19319, NA18597, NA20798, HG01351, HG01168, NA18923, NA18567, NA18547, NA18960, NA19062, NA18916, NA18574, NA20768, NA19457, NA18571, HG01083, HG01365, NA19079, HG00158, HG00512, NA19720, HG00148, NA19372, NA11994, NA19235, HG00705, NA19722, HG00160, HG00118, NA18990, HG01198, NA18557, HG01048, NA18985, HG01133, NA18867, NA20753, NA12777, NA18605, HG00731, HG00443, NA18538, HG01171, HG00282, NA19070, NA19056, HG00245, HG01095, NA19455, NA19663, HG00556, HG00583, NA19081, HG01498, NA18572, NA18948, HG00692, NA19064, HG00740, NA18537, HG01102, HG00324, HG00651, NA19084, HG00690, HG00404, HG00479, NA20581, NA11893, HG00331, NA18532, HG01101, HG00140, NA19099, NA19059, NA19009, NA18963, NA18523, HG00463, NA19469, NA18570, NA19625, NA18593, NA12546, NA19012, NA18974, NA19375, NA19003, HG00258, HG00611, NA18632, NA19652, NA19390, NA19147, HG00625, NA20276, NA19434, NA18564, NA18628, NA19072, HG01551, NA19444, NA19010, NA20790, HG01375, HG00473, NA20792, NA20778, NA19428, NA19311, HG01113, HG01137, NA19083, NA18943, NA20281, NA19783, HG00662, NA18615, NA18610, HG00620, NA19328, HG00478, NA18636, HG00310, NA19102, NA18873, NA20758, NA18983, HG00274, NA20503, HG00595, NA19129, NA18624, NA18623, NA19063, NA19065, NA20754, NA19429, NA19346, NA19074, NA18487, HG00553, HG00581, NA18577, NA19676, NA18620, HG01516, HG00593, HG00403, HG00096, HG00536, NA19397, NA19466, NA11995, HG00524, HG01052, NA18980, NA18561, NA19704, HG01188, NA18599, HG01389, NA18603, HG00640, HG00318, NA19057, NA18596, HG01456, HG00179, NA20808, NA20346, NA19190, NA19098, NA18526, NA07357, HG00327, NA18967, HG01250, NA19076, NA20796, NA18944, NA18550, HG01366, HG01070, HG00251, HG00501, NA18595, NA20586, HG00173, NA18982, NA18635, NA20317, NA18619, NA18942, HG00346, NA12283, HG01354, NA19088, HG00247, NA19782, NA18964, HG00590, HG01134, HG01067, NA18874, HG00106, HG01170, NA19917, HG01072, NA19075, NA19385, HG00422, NA19317, NA18986, HG01440, HG00182, NA19002, HG00427, NA19901, NA18520, HG00159, NA18975, NA18973, HG00419, NA19451, HG00264, NA18614, HG01353, HG01183, HG01136, NA18544, NA19657, NA19437, HG01360, NA19082, NA19707, NA18934, HG01384, HG00328, NA12342, HG00428, HG00190, HG00577, NA18956, HG00701, NA18991, NA18516, HG00436, HG00584, HG00500, NA18910, NA18976, NA20344, NA19776, NA18566, HG01094, HG01073, NA20299, NA19774, NA19000, NA19449, NA19655, HG00525, NA19756, NA18634, HG00476, NA20773, NA18535, HG01190, HG00285, NA18952, NA19749, HG00375, HG00136, NA19773, NA07051, NA20785, HG00308, NA19334, NA19439, NA20504, NA20516, NA19085, NA06986, HG00269, NA19759, NA19398, HG00672, HG00111, HG01491, HG00312, NA19060, NA18987, HG00174, NA18972, HG00343, NA18552, HG00372, NA18984, NA07056, NA19755, NA19004, NA20322, HG00437, NA18562, NA18965
Known GenesTMTC1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668814
Frequency
Sample Size1151
Observed Gain0
Observed Loss341
Observed Complex0
Frequencyn/a


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