A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675086



Internal ID9594505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:68508039..68625352hg38UCSC Ensembl
chr4:69373757..69491070hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38117314
hg19117314
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv951e199
Supporting Variantsessv6521333, essv5475281, essv5714483, essv6169837, essv6346376, essv6256819, essv6580106, essv6057609, essv6504502, essv6026633, essv6231264, essv5981443, essv6542150, essv5659512, essv5409353, essv6389577, essv6580170, essv5753959, essv5836651, essv5683099, essv6011021, essv5936583, essv5783080, essv5402530, essv6505442, essv5401720, essv6310472, essv6355500, essv6553627, essv6226757, essv6353042, essv6416246, essv5718248, essv6043656, essv6556734, essv6517306, essv5734987, essv6470848, essv5920678, essv6167247, essv5445098, essv5526773, essv6546576, essv6416022, essv5660942, essv6152872, essv5502965, essv5900377, essv6579838, essv6091333, essv5999728, essv5992546, essv5837078, essv6046450, essv5583432, essv6370621, essv6415524, essv6313396, essv5992661, essv5924898, essv5509878, essv5557882, essv6374563, essv6497063, essv5443181, essv6225941, essv5752352, essv6346009, essv6308532, essv6037819, essv5659634, essv5453615, essv5825390, essv6422451, essv6288668, essv5913314, essv5908034, essv5611891, essv6463854, essv5899911, essv6069911, essv6320718, essv6519056, essv6309398, essv6037556, essv5586907, essv6000520, essv6553205, essv5676070, essv6583241, essv5661509, essv6474693, essv6183890, essv6300278, essv6080885, essv5746916, essv5994948, essv6554717, essv6537181, essv6511575, essv5893184, essv6265449, essv5864026, essv6254232, essv5445952, essv5839096, essv5679276, essv6349675, essv6267623, essv6286262, essv5793772, essv6172045, essv5882613, essv5631317, essv6299392, essv5612602, essv6547791, essv5866695, essv6103003, essv6451534, essv6440662, essv5725209, essv5598728, essv5606062, essv5649055, essv6265070, essv6548780, essv6282281, essv5927581, essv5991548, essv5425849, essv5661938, essv6148851, essv5916883, essv6391757, essv6517263, essv6021954, essv5786503, essv5696917, essv6578048, essv6303098, essv6199099, essv6245229, essv5401063, essv5418339, essv6142178, essv5869217, essv5780503, essv5890893, essv5450193, essv5727376, essv6073377, essv6425795, essv6071953, essv5760614, essv6488534, essv6372422, essv6587279, essv6167937, essv5638806, essv6472045, essv6476991, essv5859133, essv6055853, essv5897003, essv5733869, essv5900040, essv6569104, essv6324118, essv6284952, essv5880967, essv5728457, essv6315879, essv6055538, essv5456190, essv6045780, essv6450291, essv6093350, essv5736294, essv6216232, essv6327174, essv6362359, essv6130981, essv6424829, essv5740719, essv6471615, essv6489286, essv5601583, essv6235942, essv5570036, essv6102774, essv6121248, essv6061767, essv6575274, essv5606769, essv6098497, essv5684699, essv6239594, essv5793866, essv6116211, essv6210306, essv5421001, essv5502486, essv6486591, essv6164703, essv6038712, essv5880088, essv6339955, essv6594618, essv5690768, essv5943733, essv5960131, essv6231252, essv6294959, essv5418664, essv6235417, essv6175916, essv5971033, essv6472338, essv5880759, essv6352804, essv5959630, essv6333158, essv5530559, essv6152723, essv6561453, essv5655785, essv6087193, essv6011242, essv5638061, essv5876705, essv6520481, essv5557109, essv6056555, essv6103039, essv5833442, essv6469793, essv6380773, essv6281415, essv6271488, essv5939905, essv6016646, essv6558326, essv5639457, essv6074764, essv5444414, essv6409561, essv5599489, essv5582387, essv5667270, essv5498451, essv6413462, essv6124893, essv6045058, essv6273401, essv5623753, essv5529738, essv5519102, essv6441794, essv5461556, essv5745710, essv6085751, essv6475661, essv6084043, essv6212506, essv5871096, essv6015894, essv5420268, essv6207559, essv5599102, essv6224782, essv5666593, essv5831427, essv5640980, essv5876522, essv6040677, essv5452216, essv6543754, essv5689322, essv6084892, essv5562158, essv5721737, essv5791014, essv5461074, essv5492532, essv5930610, essv5748844, essv5890039, essv6441804, essv6555807, essv6417813, essv5469271, essv5533056, essv5657049, essv5960093, essv6479406, essv6344443, essv6283837
SamplesHG00650, HG00542, HG00442, NA19058, HG00608, NA18947, NA19664, HG00671, NA19066, HG00559, HG01066, HG00151, NA18999, HG00233, HG00244, NA19684, NA18959, HG00737, HG00449, HG00654, NA19067, HG00693, NA18988, HG00663, HG00138, NA18940, HG00589, HG00122, HG01351, NA19678, HG01168, HG01492, NA18960, NA19062, HG01365, HG00537, NA19079, NA18949, HG00158, HG00512, HG01069, HG01080, HG00148, HG00232, HG00534, HG00705, NA19722, HG00118, NA18990, HG01048, NA18985, HG01550, HG01124, HG00137, NA18951, HG00443, NA19070, NA19056, HG00557, HG00657, NA19717, HG00556, HG00583, NA19081, HG01498, HG00263, HG01149, NA18948, NA18981, HG00692, NA19064, HG01102, HG00651, HG00250, NA19084, HG00690, HG00404, HG00531, HG00479, HG00684, NA19750, NA19059, HG01334, NA19761, NA19009, HG00146, NA18963, HG00463, HG00126, NA19012, NA18974, NA18953, NA19003, NA19729, HG00611, NA19652, HG00155, HG00254, HG00265, NA19747, NA19072, HG00580, NA19010, HG01357, HG01174, HG00473, HG00237, HG01113, HG01137, HG00116, NA19083, NA18943, NA19783, HG00662, HG01489, HG01342, HG00620, HG00614, HG00513, HG00478, NA19785, HG00259, NA19779, NA19716, HG00112, NA19080, HG00595, NA18989, HG00628, NA18968, NA19063, NA19065, NA19074, HG01437, HG00553, HG00581, NA19676, HG00593, HG00626, HG00403, HG01441, HG00592, HG01356, NA19055, HG00536, HG00231, HG00249, HG01359, HG00524, HG01052, NA18980, HG00100, HG01389, HG00640, HG01465, HG00699, HG00103, NA19777, NA19057, HG00566, HG00150, HG01140, NA18967, NA19068, HG01250, NA19746, NA19660, NA19076, NA19005, NA18944, HG01366, HG01070, HG00251, HG00501, NA19728, HG00702, HG00689, HG00448, NA19723, NA18982, HG00634, NA18942, HG00610, HG01354, NA19771, NA19088, HG00247, NA19054, NA18964, HG00590, NA19651, HG01067, HG00120, HG00683, HG00106, HG01170, HG00236, HG01495, HG01072, NA19731, NA19075, HG00422, NA18986, NA19087, HG01440, NA19002, HG00427, HG00637, HG00159, NA18975, NA18973, HG00419, HG00264, HG00464, HG00108, NA19007, HG00543, HG00133, HG01136, HG00149, HG00560, HG00629, NA19657, HG01360, NA19082, HG01187, HG00596, HG01384, NA19077, HG00428, HG00653, HG00577, HG00701, HG00475, HG00436, HG00584, HG00533, HG00500, NA19788, NA18976, HG00619, NA19776, HG00708, HG00635, HG01390, HG01073, NA19774, NA19000, HG01197, HG01182, HG00613, HG00525, HG00157, NA18945, HG01204, HG00476, HG00124, HG00119, NA18961, NA18952, HG00565, NA18950, NA19732, HG01253, NA18941, HG00638, NA19773, HG00607, HG01108, HG00256, NA19085, NA19078, HG00707, HG00672, HG00111, HG00578, NA18971, HG01491, NA19060, NA18987, HG00656, HG01254, HG00123, HG00698, HG00131, NA18972, HG01251, HG00252, HG01377, NA18984, HG00472, NA19755, NA19004, HG01112, HG01097, HG01061, HG00437, NA18965
Known GenesUGT2B17
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675086
Frequency
Sample Size1151
Observed Gain0
Observed Loss298
Observed Complex0
Frequencyn/a


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