A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670454



Internal ID9936559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:35864267..35864585hg38UCSC Ensembl
chr13:36438404..36438722hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg38319
hg19319
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5684654, essv5735449, essv6210949, essv6042381, essv6489925, essv5454321, essv5960346, essv6056680, essv5812774, essv6505443, essv6477840, essv5686663, essv5644490, essv6378555, essv5620370, essv6140130, essv6356647, essv5656771, essv6565291, essv5857296, essv5527476, essv5549584, essv5734034, essv6244239, essv6459545, essv6456554, essv6553478, essv6227796, essv6001183, essv6139685, essv6206692, essv5866538, essv6112207, essv6512933, essv6547580, essv5538467, essv5853076, essv6069262, essv5529896, essv5876309, essv5908087, essv6313297, essv5912064, essv6501784, essv6099159, essv6143306, essv5732004, essv6445794, essv6328473, essv6436430, essv6552660, essv6177841, essv6597804, essv6274436, essv6268739, essv6428018, essv6571049, essv6315003, essv6020467, essv5954643, essv5863415, essv6212071, essv6257888, essv6342083, essv5934482, essv5695543, essv6502865, essv5617087, essv5563061, essv6467344, essv5667687, essv6399305, essv6163079, essv5938222, essv6307249, essv5534680, essv5678634, essv6542788, essv6061904, essv6276613, essv5957350, essv5752671, essv6260915, essv5665565, essv5572280, essv5715053, essv6214313, essv6455266, essv5507414, essv5970235, essv5770479, essv5990554, essv6070992, essv5680925, essv5861755, essv6472343, essv5950317, essv6586199, essv5704797, essv6533347, essv5540115, essv5707810, essv6372899, essv6528775, essv6041368, essv6357276, essv6243803, essv6539411, essv6424642, essv5924573, essv5918636, essv5962855, essv5472793, essv5524609, essv5904057, essv6288293, essv6480759, essv5742445, essv6360072, essv6363370, essv5701335, essv5888546, essv5928628, essv5731705, essv6437681, essv5527175, essv5629312, essv6200763, essv6387645, essv5442102, essv6516475, essv6021040, essv5687732, essv5713644, essv6230169, essv6250064, essv6330810, essv5832197, essv6574174, essv6070843, essv5875422, essv6115662, essv5860744, essv6199842, essv5630147, essv6480954, essv5424752, essv5952009, essv6129081, essv5986830, essv5601977, essv6307339, essv6493212, essv5939862, essv6074137, essv6127483, essv5861210, essv6227280, essv5509937, essv5722943, essv5805772, essv6461971, essv6154446, essv6129001, essv6419681, essv5451486, essv5783897, essv6517319, essv6269686, essv5979139, essv6350359, essv6526597, essv5436653, essv5412181, essv6182550, essv6183111, essv5860340, essv6285723, essv6212131, essv6281903, essv6175587, essv5909531, essv5681482, essv6170080, essv5469562, essv5786471, essv6146753, essv5505843, essv5427288, essv6405476, essv6483502, essv5420418, essv6456262, essv5784248, essv5858589, essv5802860, essv5655276, essv5780029, essv6319874, essv6551939, essv5566803, essv5489758, essv6124369, essv5558202, essv6056285, essv5786555, essv5783854, essv6375504, essv5784912, essv6400637, essv6153423, essv5858745, essv6072824, essv6575033, essv6065741, essv5738241, essv6263533, essv5821071, essv5937514, essv6556178, essv6110746, essv5448223, essv6073361, essv6385214, essv6370345, essv5535729, essv5642261, essv5525763, essv5585513, essv5450478, essv6262841, essv6364675, essv6233383, essv6388230, essv6563636, essv5461601, essv5443754, essv5446727, essv5963875, essv6447435, essv5708655, essv6384069, essv6033623, essv6242130, essv6444361, essv6582195, essv5725875, essv6130556, essv6349064, essv5787942, essv5635281, essv6070454, essv5789353, essv5570743, essv6106919, essv6266447, essv6563669, essv5921702, essv6547525, essv5529118, essv6149283, essv5447413, essv5442667, essv6222515, essv6297532, essv6167592, essv5580897, essv6319989, essv6208318, essv6506705, essv5641950, essv5642871, essv5977799, essv6533409, essv5870493, essv6113438, essv6236541, essv5636869, essv6352349, essv6260067, essv5626199, essv6051864, essv5888047, essv6519761, essv6046339, essv5943651, essv5818311, essv5652400, essv6012876, essv5527443, essv6271456, essv6305238, essv6207897, essv5828605, essv6043412, essv5783309, essv6173121, essv6137972, essv5915574, essv6451583, essv5934935, essv6339422, essv6366693, essv6578607, essv5525180, essv6149456, essv5739541, essv6184151, essv5819437, essv5836525, essv6280696, essv5846816, essv6096379, essv6127399, essv5907419, essv5684925, essv6060573, essv5846848, essv6244556, essv6104054, essv5747606, essv6048660, essv6135842, essv5509366, essv5735563, essv5888207, essv6495233, essv6374814, essv6139332, essv6172720, essv5590737, essv5882891, essv6439572, essv5873362, essv6421526, essv6198215, essv5649131, essv5400875, essv5655189, essv5880494, essv5873847, essv6566219, essv5454143, essv6342622, essv6207022, essv5849756, essv5626393, essv6062570, essv5844673, essv6005437, essv6359160, essv5594778, essv6377621, essv5558482, essv6227610, essv6018882, essv5560194, essv6465249, essv5875510, essv6403551, essv6128030, essv6278118, essv5440581, essv6117486, essv5834862, essv6092163, essv6017631, essv6041404, essv6088289, essv5854238, essv6129466, essv5501613, essv6319029, essv6493617, essv6575656, essv6260465, essv6550260, essv5416565, essv6441912, essv6215747, essv6261754, essv5466669, essv5735055, essv5409325, essv6143209, essv6284505, essv5412154, essv5799752, essv6174830, essv6134052, essv5524410, essv5891961, essv5435344, essv5704181, essv6158071, essv5566244, essv6276960, essv5540557, essv6467214, essv5735823, essv5667552, essv6121754, essv6227573, essv5414628, essv6116552, essv6443825, essv5600107, essv5874904, essv5793383, essv6239452, essv6502605, essv6497444, essv6051136, essv5817607, essv6559993, essv6387438, essv6577772, essv5678084, essv6566698, essv6019048, essv5400570, essv6250803, essv5798595, essv5503911, essv5675647, essv5678363, essv5535136, essv5504158, essv5485415, essv5438221, essv6575621, essv6527156, essv6245631, essv5922230, essv6302645, essv6492770, essv5453329, essv5503050, essv5577843, essv5689841, essv6369750, essv5647871, essv5400022, essv6522030, essv6085953, essv6384682, essv5533263, essv5791428, essv5709293, essv6193064, essv5839385, essv6310785, essv6273053, essv5518472, essv6203463, essv6550038, essv6355990, essv5633763, essv6387871, essv5879852, essv6320303, essv6487523, essv6466426, essv6153262, essv6361695, essv5443752, essv6593777, essv6180517, essv5760967, essv6046012, essv6493639, essv6352943, essv5914295, essv5509026, essv5880087, essv6574347, essv5576426, essv5853408, essv5727558, essv5421151, essv5528470, essv6555256, essv6335843, essv5683993, essv6044646, essv5646475, essv5581337, essv5989966, essv6423093, essv5613232, essv6413779, essv5758200, essv6045286, essv5843594, essv5725803, essv6166353, essv5866872, essv6595607, essv6048534, essv6328355, essv5896261, essv5919778, essv5426243, essv5486458, essv6479559, essv5960483, essv6084294
SamplesNA18502, HG00442, NA18621, NA18947, NA19664, NA12414, NA11931, NA12751, NA18504, NA19684, NA19377, NA18530, HG01461, NA18633, NA12750, HG00337, NA12813, NA19171, HG01350, NA19379, HG00122, NA20798, NA19678, NA20756, NA20795, NA18558, NA18547, HG01492, NA18618, NA18916, NA18574, NA18582, HG00311, NA19079, NA18949, HG00158, HG00281, HG00139, NA20759, NA19720, HG00335, NA18868, NA19238, NA19172, NA18985, HG00326, NA19985, NA18867, NA19789, NA20755, HG00137, NA18951, NA18605, NA20535, NA12489, HG00731, NA20800, NA19056, HG00657, NA20810, NA20760, NA19081, NA18572, NA18948, NA18981, HG00692, NA19064, NA18548, NA18907, NA18537, HG01102, NA19084, HG00690, HG00404, NA11893, NA19750, NA18532, NA19059, NA19009, NA19682, NA18523, HG00126, NA19625, HG01107, NA20799, NA19729, HG00611, NA19256, NA18517, NA18564, HG00580, NA19331, NA19010, NA19428, HG00116, NA19083, NA18943, NA20281, HG00662, NA18615, NA12347, NA19328, HG00478, NA19785, NA18631, NA19223, NA19779, HG00267, NA18609, NA19102, NA18873, HG00377, HG00595, NA18989, NA19129, HG00628, NA18624, NA19065, NA18612, NA19429, NA19074, NA18487, HG01437, NA18577, NA20772, HG00593, HG00626, HG01060, HG01441, NA19700, HG00592, NA19055, NA18924, NA11995, NA18592, HG01052, NA18980, HG01079, NA18561, NA19704, NA18507, NA18599, NA18603, NA12045, HG00699, NA19819, NA12004, NA12058, NA19190, NA19098, NA18526, NA12341, NA19068, NA19746, NA19076, NA18550, NA18489, NA19728, HG00702, HG00689, NA19723, NA18635, HG00634, NA19131, NA18942, NA19197, HG01354, NA19313, NA12287, NA18498, NA19681, HG00590, NA20541, HG01134, NA19651, HG00106, HG01170, HG00262, NA19371, NA19075, NA19471, NA12889, NA19159, NA19002, NA19725, NA19189, NA18520, NA19209, NA12828, NA18908, NA18973, HG00530, NA18638, NA19007, HG00543, HG00188, HG00560, NA19247, NA18613, NA19657, HG00183, NA19082, NA20524, NA19077, NA19347, NA19391, NA19982, NA19788, NA18976, NA19776, NA19000, NA18499, NA18853, NA19225, NA19756, NA19160, NA20542, NA18576, NA19685, HG00476, NA20801, NA18535, NA19834, NA19108, NA18952, NA18543, NA18559, NA18950, NA19732, HG00638, HG00607, HG00319, HG00256, HG00125, NA20341, NA19818, NA19759, HG00578, NA19248, NA19438, NA18987, NA19713, HG00174, NA18972, HG00372, HG01377, NA18984, HG00472, NA18505, NA19004, HG00437, NA19153, NA19394, NA19701, NA12717, HG00143, NA19703, HG01462, NA20508, HG00242, NA19204, NA18861, NA18508, HG00559, NA18565, HG01066, HG00315, NA20816, NA19355, NA18959, NA18616, NA20517, HG01051, NA18510, NA18602, NA18627, NA19107, HG00663, NA07346, NA18563, HG00641, NA18940, NA18519, HG00272, NA19319, NA18597, HG01351, HG01168, NA18923, NA18567, NA19062, NA07347, NA19457, NA18571, HG00185, NA19130, HG00148, NA12156, HG00232, NA19372, NA12044, NA11994, NA19235, NA19207, NA19722, NA18990, HG01198, HG01133, NA20753, HG01124, HG00443, HG01171, NA19403, NA18933, HG00263, HG00275, NA18579, NA18871, NA18534, HG00551, HG00740, NA19654, HG00324, HG00284, NA18573, NA19461, HG00250, NA18626, NA18912, HG01101, NA18553, NA19099, NA18555, HG00152, NA18963, NA12144, NA19469, NA18570, NA18858, NA12546, NA18541, HG01075, NA19012, NA18974, NA18953, HG01148, NA19003, HG00258, NA18632, NA19390, NA19147, HG00625, NA19747, NA19072, HG00734, NA20527, HG00473, NA20778, NA19311, HG01113, NA20544, NA19783, HG00418, NA18610, HG01489, HG00339, NA18501, NA06994, HG00259, NA19093, NA19116, NA19080, NA19780, NA19711, NA20502, NA11892, NA18968, NA18623, NA20585, NA12154, NA18620, HG00403, HG01356, NA11829, NA18917, NA18486, HG01465, HG00103, NA19777, NA18596, NA18606, HG00179, NA18870, NA12155, HG01140, NA18967, NA19381, NA19005, NA18944, NA19201, NA19382, NA19762, HG01488, HG00448, NA20586, NA19119, NA18982, NA19198, NA18619, NA11992, NA19771, NA19088, NA19138, HG00369, HG00270, NA19782, NA18964, NA18611, HG01067, NA19383, NA18874, NA19917, NA19137, HG01072, NA19731, NA19385, NA18986, HG00427, NA19901, NA19445, NA18975, NA19200, HG00739, HG00264, NA11993, NA18614, NA10847, NA18544, NA19210, HG01187, NA18934, HG00145, HG00328, NA19152, HG00577, NA18956, HG00701, NA19236, NA18516, HG00436, HG00320, NA18637, NA19658, NA18630, HG00708, HG01390, HG01073, NA19114, NA19449, NA11894, NA18856, HG00321, NA19257, HG00276, NA19675, NA18945, HG01204, NA19436, NA20765, NA18546, NA18608, NA20522, NA12716, NA18909, NA18961, NA19473, NA18941, NA19240, HG00278, NA19773, NA19380, NA19144, NA07037, NA19085, NA06986, HG00269, NA18971, HG01491, NA19060, NA20334, HG01254, HG00123, HG00698, NA19213, NA20528, NA19661, HG01378, NA19755, NA19758, NA18511, NA07000, NA18522, HG00554, HG01061, NA18562, NA12776, NA18965
Known GenesDCLK1, MIR548F5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670454
Frequency
Sample Size1151
Observed Gain0
Observed Loss507
Observed Complex0
Frequencyn/a


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