A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664491



Internal ID9930596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:60292427..60292744hg38UCSC Ensembl
chr8:61204986..61205303hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38318
hg19318
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5841241, essv5408128, essv5570150, essv6346155, essv6233473, essv6063018, essv5465379, essv6125641, essv6000868, essv5661421, essv5961093, essv6279810, essv6032100, essv5765057, essv6340151, essv6071371, essv5946829, essv5463114, essv5773851, essv5541340, essv5503494, essv6283056, essv5809438, essv5602280, essv5533388, essv6293281, essv6186977, essv5528280, essv5826673, essv6038992, essv6153554, essv6550597, essv5651896, essv6213142, essv5633579, essv5846372, essv6478865, essv5785349, essv5724070, essv5501368, essv5720137, essv6226539, essv6487367, essv5518820, essv6296821, essv6007643, essv6537231, essv6062270, essv5496570, essv5903002, essv5542689, essv5718196, essv5482208, essv6569914, essv5604789, essv6445798, essv5799055, essv6017679, essv5775956, essv5677590, essv5518738, essv6391405, essv6034851, essv6492086, essv6058215, essv5752012, essv6014032, essv6060087, essv6337990, essv6095905, essv5985782, essv6222832, essv6033137, essv6305977, essv6193172, essv6454855, essv6323648, essv5480894, essv5984246, essv5772428, essv5895024, essv5774830, essv6084472, essv5765292, essv6098521, essv5856459, essv5708582, essv6492411, essv6409440, essv5805693, essv6414995, essv5932541, essv5762920, essv5829316, essv6580815, essv5899510, essv6112214, essv6260534, essv6001076, essv5993456, essv5444599, essv6143450, essv6187799, essv5581918, essv5413739, essv5936282, essv6108197, essv5675882, essv5756009, essv5820163, essv5702486, essv6332694, essv6014654, essv6353776, essv6323522, essv5529740, essv6527615, essv5574378, essv5623299, essv5992014, essv6341267, essv6496588, essv6548899, essv6236888, essv5961276, essv5584501, essv6027506, essv5468791, essv5749940, essv5734868, essv5961137, essv5614530, essv6063711, essv5590770, essv6538854, essv5456168, essv6566749, essv6273583, essv6428875, essv6348675, essv5614603, essv5623317, essv6546072, essv5972640, essv6265258, essv6221053, essv6116116, essv6587679, essv6212031, essv5570817, essv6121597, essv6203391, essv6558769, essv5552371, essv6140821, essv5554939, essv5641355, essv6246484, essv5449384, essv6439524, essv5540066, essv5907541, essv5632453, essv5474906, essv6300812, essv5491100, essv6012049, essv5864078, essv6341344, essv5498696, essv6283131, essv6552108, essv6394349, essv6410532, essv5700261, essv6597164, essv5506517, essv6273665, essv5882700, essv5673439, essv5749025, essv6331251, essv5770473, essv6023320, essv5398917, essv6467579, essv5889974, essv6465803, essv6167787, essv5832362, essv6435828, essv6462844, essv5767559, essv5740878, essv6577465, essv6545069, essv5597870, essv6136871, essv6575707, essv6452211, essv6076383, essv6453827, essv5634158, essv5743939, essv5757446, essv5824142, essv6497119, essv6388260, essv5418365, essv6291502, essv5514122, essv6596947, essv6405945, essv6064935, essv5722920, essv5864485, essv5673829, essv6300825, essv6349001, essv5420953, essv6083020, essv6439599, essv6542556, essv6597674, essv5491804, essv6247764, essv5503716, essv5446680, essv6146834, essv5997035, essv6424447, essv5439430, essv5874252, essv5939047, essv6046050, essv5690684, essv6101615, essv5943095, essv6021511, essv6072010, essv5728961, essv6368030, essv6187655, essv5504383, essv5405625, essv6310208, essv5759349, essv6071304, essv5645364, essv5540961, essv6462781, essv6294271, essv5928657, essv5735154, essv5564237, essv5743691, essv5998421, essv5806095, essv6012846, essv5620065, essv5531964, essv6048770, essv6367790, essv5908116, essv6292740, essv6279053, essv5663876, essv5872142, essv6471619, essv6180331, essv6021383, essv5758874, essv6560744, essv6289480, essv6503927, essv6095268, essv5551578, essv6526356, essv6372262, essv6055818, essv5413413, essv5908843, essv5548456, essv5426586, essv6227072, essv6009195, essv5741283, essv5927454, essv5497733, essv5597687, essv6402506, essv6304067, essv6592428, essv6591311, essv5857967, essv6441589, essv5420593, essv5619675, essv5424329, essv5824234, essv5667957, essv6306654, essv6158317, essv5437424, essv5444510, essv6386829, essv6310881, essv5784251, essv5544727, essv6400027, essv6333668, essv6477004, essv5921404, essv6563967, essv5945605, essv5809606, essv5705331, essv5639129, essv6338344, essv6216200, essv6064297, essv6169367, essv5398639, essv5992152, essv5449473, essv6261757, essv5985500, essv5938263, essv5647117, essv6106410, essv5851748, essv5541178, essv6337659, essv5693988, essv5396806, essv6113267, essv5941890, essv6283454, essv5732510, essv6363388, essv6387970, essv5631427, essv6584248, essv6065089, essv5874596, essv5905095, essv6463429, essv6343146, essv6201180, essv6300355, essv6200025, essv5562970, essv6549977, essv6151156, essv5401760, essv6233258, essv6090772, essv6307596, essv5876103, essv5603041, essv6585223, essv6157097, essv5697524, essv6439504, essv6119347, essv5593196, essv5828227, essv5408013, essv5768372, essv5677544, essv5863632, essv6136104, essv5598534, essv6476106, essv6379739, essv5408877, essv5680801, essv6088499, essv6171894, essv5699776, essv5612465, essv5676406, essv5643740, essv6570028, essv6516614, essv6477692, essv5615365, essv5550249, essv5475427, essv6404097, essv6068292, essv5563331, essv5742317, essv5553899, essv5480768, essv5435285, essv6234235, essv5681302, essv5811520, essv5443444, essv6593686, essv5977328, essv5804687, essv6464306, essv6292853, essv5788171, essv5715000, essv5689023, essv6060948, essv5506103, essv6390007, essv6365836, essv6099981, essv5727293, essv6502268, essv6166886, essv5870654, essv5962665, essv5576192, essv5864059, essv5833940, essv6092083, essv5916318, essv6588410, essv5780410, essv6568682, essv6540517, essv5996380, essv5990664, essv5977312, essv5438458, essv6433762, essv5414996, essv5985932, essv6496104, essv5682056, essv5904091, essv5721282, essv5439206, essv5594723, essv5917398, essv5807839, essv6542639, essv5924530, essv6182646, essv6236154, essv5807638, essv5724753, essv6314662, essv6058851, essv6549946, essv5431628, essv6524525, essv6510487, essv5548267, essv6458553, essv5986220, essv5603482, essv6506308, essv6370094, essv5851880, essv5889391, essv6058588, essv5895541, essv5417319, essv6205182, essv6522285, essv5845876, essv6512126, essv5903109, essv5594027, essv6430874, essv6323583, essv6107994, essv5732455, essv5969865, essv6108440, essv5407307, essv5667451, essv5602944
SamplesNA20588, NA18502, HG00189, NA19058, NA20529, HG00608, HG00142, NA18947, NA19664, NA12414, NA12843, NA11920, NA11931, HG00257, HG00151, NA18999, HG00233, NA12751, NA18504, NA19684, NA19377, NA18530, NA19920, NA12750, NA20806, HG00337, NA12813, NA19171, NA19379, HG00122, NA19315, NA20589, NA19678, HG01492, NA18574, NA07048, NA18582, NA20768, HG01365, NA19384, HG00537, HG00243, HG00158, HG00139, NA20812, NA18868, NA19238, HG00326, HG00323, NA18867, HG01550, NA19921, NA12777, NA18605, NA20535, NA12489, HG00731, HG00266, NA19056, NA12878, NA20760, NA19663, HG00344, NA19081, NA20519, NA18572, NA18948, NA18981, NA19064, NA18907, NA18537, HG01047, HG01102, NA12829, NA11893, NA18532, NA06989, HG01334, NA19452, NA18523, NA19318, NA12778, NA19625, NA18593, HG01107, HG00611, NA19652, NA19440, NA18564, NA20520, HG01174, NA18943, NA19360, NA12763, HG01342, NA12347, HG00614, NA19223, NA19779, HG00267, NA19102, HG00274, HG00595, NA19129, NA18624, NA19429, NA18487, HG01437, HG00581, NA18577, NA11832, NA20772, HG00096, HG01060, NA19700, HG00592, NA19397, NA18924, NA11995, NA18592, HG01052, NA18980, HG01079, HG01188, NA11933, HG01389, HG00306, NA12045, NA12004, NA20346, NA19190, NA19098, NA18526, NA12400, NA12413, NA12341, NA19746, HG00251, NA18489, HG00689, NA18635, HG00330, NA19131, HG00610, HG01354, NA12287, HG00247, NA20513, NA12761, NA12282, HG00277, HG00683, HG00236, NA20340, NA18560, HG01176, NA12889, NA19159, HG00182, NA19725, NA18520, HG00338, NA19209, NA12828, HG00178, NA18908, NA19451, NA18638, NA12748, HG00464, HG00108, NA19007, HG00543, HG01136, HG00188, HG00629, NA19657, HG01360, HG00176, NA20787, NA12342, NA20809, NA20536, HG00475, HG00500, NA18910, NA18976, NA19655, HG00373, HG01197, NA12892, NA19225, HG00141, NA19160, NA18576, NA20526, NA19685, HG00119, NA11881, NA19834, NA18952, NA18543, NA12775, NA19749, HG00375, HG00136, HG00638, NA20504, NA20803, NA19818, HG00672, HG00578, HG00312, NA19472, NA12749, NA19713, NA12830, NA20807, NA18972, HG00343, HG00252, HG01377, HG00472, NA18549, HG00437, NA19153, NA19394, NA12383, NA12717, NA12842, NA19909, NA20766, NA12286, NA20508, NA19204, NA18861, NA18508, NA10851, NA12273, HG01066, NA20752, HG00244, NA19359, NA20294, HG00737, NA18616, NA20517, NA19443, HG00261, NA18988, HG00271, NA19107, NA07346, NA19373, NA18519, NA18597, HG01351, NA18923, NA18567, NA07347, NA19904, NA19130, NA11930, NA20539, NA12275, HG01069, NA20518, HG00148, NA12156, HG00325, NA11932, NA19372, NA12044, NA11994, NA19235, NA19207, HG00118, HG01198, HG01048, HG01133, NA20342, NA18539, NA20753, NA19908, HG00268, HG00282, NA19670, NA19403, NA19455, HG00556, HG00583, HG00263, HG00275, NA18579, NA18871, NA18534, HG00239, HG00740, NA20525, HG00324, HG00284, NA11919, HG00651, HG00684, HG01101, NA18553, NA19099, HG00152, HG00704, NA12144, NA19469, HG00246, NA18570, NA18858, NA12546, HG01075, NA18974, NA12043, HG00258, HG00254, NA19390, NA19747, HG00353, NA20815, NA12272, NA20790, HG00473, NA20792, NA19679, NA20544, HG01137, HG00418, NA18610, HG01489, HG00620, NA06994, HG00259, NA19468, NA19093, NA20510, NA18636, HG00310, NA20786, HG00280, NA11843, NA20758, NA19116, NA19780, NA19711, NA20502, NA19430, NA11892, HG01111, NA19316, HG00171, NA18968, NA12890, NA12006, NA19463, NA12154, HG00553, NA18620, NA11830, HG01356, HG00231, HG00249, NA11829, NA19914, HG00187, NA20531, NA18486, NA20805, NA19777, NA18596, HG00177, NA12155, NA07357, HG00327, NA18967, NA19396, NA19005, HG01366, NA19201, NA19382, NA19762, NA19448, HG01488, HG00448, NA20586, NA19119, NA19198, NA12891, NA12348, NA11992, NA12283, NA19782, NA19404, HG01067, NA19383, NA20819, NA06984, NA18977, NA19385, HG00422, NA19317, HG00309, NA19901, HG00159, NA18975, NA19200, HG00264, NA11993, NA18614, NA11831, NA10847, HG01353, HG00313, HG00133, NA20505, NA12003, NA19152, HG00577, NA18956, NA19236, NA18516, HG00320, HG00533, NA20506, NA20126, NA18630, HG00619, HG00708, HG00635, NA18566, HG01073, HG00273, NA19449, NA11894, NA18856, HG00613, HG00321, NA12827, HG00276, NA19675, NA18945, NA18608, NA20773, HG01190, HG00285, HG00366, HG00357, NA19435, HG00278, NA19144, NA20785, NA12046, NA19467, NA20516, NA07037, NA19085, NA06986, HG00269, HG00111, NA18971, NA20334, HG01254, HG01055, HG00123, HG00698, HG00131, NA19213, NA20528, NA19661, NA18488, NA19758, NA07000, NA18522, HG00554, HG00180, NA12776
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664491
Frequency
Sample Size1151
Observed Gain0
Observed Loss480
Observed Complex0
Frequencyn/a


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