A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677942



Internal ID9597361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:179638146..179638924hg38UCSC Ensembl
chr1:179607281..179608059hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38779
hg19779
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6523744, essv6024402, essv5894873, essv6000259, essv6318391, essv5441432, essv5727777, essv5811937, essv6188436, essv6012248, essv6223240, essv6435525, essv6396998, essv5787419, essv5664432, essv5761017, essv5567732, essv6584433, essv5414837, essv5429749, essv5868573, essv6149096, essv5709782, essv5432831, essv6326933, essv6310477, essv6527470, essv5651142, essv6191078, essv6334647, essv6469720, essv6397774, essv6203323, essv5973688, essv6083224, essv6109464, essv6256845, essv5769493, essv6475653, essv6076360, essv5594782, essv6473759, essv6436939, essv5705815, essv6429710, essv5417373, essv6492127, essv6173055, essv5426552, essv6255468, essv5682492, essv5554786, essv5637149, essv6134909, essv5632145, essv6421368, essv6202090, essv6031894, essv6548099, essv5490850, essv5794897, essv5640537, essv5460762, essv6355343, essv6060432, essv6510889, essv6156595, essv6162500, essv6042034, essv6348475, essv6391308, essv6072813, essv6295960, essv6379028, essv6532244, essv5454021, essv6091931, essv5752165, essv5677507, essv5754901, essv5474540, essv6480369, essv5686145, essv6453867, essv5898171, essv5572974, essv5972616, essv5816385, essv5698897, essv5717792, essv6509081, essv5798072, essv5464505, essv6420575, essv6318854, essv6032101, essv6453498, essv5727499, essv6568603, essv6064030, essv5776691, essv5662882, essv6126200, essv5427061, essv5883666, essv6024832, essv5562497, essv6084646, essv5769436, essv5663647, essv6109778, essv6041568, essv6096709, essv5827604, essv6344267, essv5557138, essv6482279, essv6066165, essv5412871, essv5706388, essv5923241, essv5693926, essv6301951, essv6001643, essv5605885, essv6488391, essv6076492, essv5550803, essv6038258, essv6040542, essv5987043, essv5801182, essv5997057, essv5465160, essv5468352, essv5500218, essv6278543, essv5973486, essv5591396, essv5493734, essv6028946, essv5742310, essv5465943, essv5729048, essv5616702, essv5572844, essv6596984, essv5832522, essv5946399, essv6413795, essv5661477, essv5658135, essv6585755, essv6454080, essv6291913, essv5791914, essv5999160, essv5570392, essv6596204, essv5962287, essv6077283, essv6451675, essv6307599, essv6457389, essv6108875, essv6314189, essv6100961, essv5729852, essv6542289, essv5943425, essv5641845, essv6557546, essv5453767, essv6393491, essv5823507, essv6366306, essv5560049, essv5842570, essv5940744, essv6261698, essv5985290, essv6317061, essv6451996, essv6293423, essv5510974, essv6254087, essv5591965, essv5531662, essv5489227, essv6248090, essv5780869, essv6594191, essv5978781, essv5800124, essv6059773, essv6376314, essv5463460, essv6303315, essv5475648, essv5529093, essv6090564, essv6458774, essv6372950, essv6441326, essv6398086, essv6116491, essv6253307, essv6242522, essv6530187, essv6426642, essv5846139, essv5890888, essv6092476, essv5596848, essv5971114, essv5447713, essv6222509, essv6377862, essv6386746, essv5678141, essv5616414, essv6375640, essv5838653, essv6154580, essv5895256, essv6204139, essv5634454, essv6036236, essv5637542, essv5658133, essv6079264, essv6186974, essv5469228, essv5480602, essv5517799, essv5974446, essv5533647, essv5512437, essv6007952, essv6570527, essv6192653, essv5813505, essv5942128, essv5731634, essv6332462, essv5941535, essv5438209, essv5407527, essv5593675, essv6262738, essv6068277, essv5914719, essv5951962, essv5668596, essv6186411, essv5441382, essv5625221, essv6454993, essv5706254, essv5513466, essv6357269, essv5576810, essv5766927, essv5437222, essv5670415, essv5909846, essv6387655, essv6230222, essv5424761, essv5628581, essv5798138, essv6384018, essv6253800, essv6064333, essv5436390, essv6068980, essv6287911, essv6209964, essv6093511, essv6185823, essv5517593, essv6126370, essv5503493, essv5841143, essv5408002, essv5726292, essv5800007, essv5503986, essv5880432, essv6592409, essv6201950, essv6510503, essv6349759, essv5534297, essv5541585, essv6237114, essv5688453, essv5624502, essv5809558, essv6398945, essv5911809, essv6161212, essv5731931, essv6296264, essv6289853, essv5518436, essv5769267, essv6570037, essv6035638, essv6419575, essv6151814, essv5735251, essv5796113, essv6038514, essv6587277, essv5556833, essv5414108, essv6228492, essv5829335, essv5853040, essv5661935, essv6453401, essv6264853, essv5969322, essv5708791, essv5951564, essv6172052, essv5792120, essv6461187, essv6497337, essv5966498, essv5532553, essv6426204, essv6592815, essv6505212, essv6514217, essv5908217, essv6442234, essv6439942, essv6330490, essv6115238, essv6463736, essv6115613, essv5884538, essv6160402, essv6163519, essv6063319, essv6216152, essv6489642, essv6208673, essv6306515, essv5634103, essv6220850, essv6331076, essv6567182, essv5547834, essv6155213, essv6291463, essv5873294, essv6503870, essv5755607, essv6286289, essv6517671, essv5549647, essv6322719, essv6565507, essv6211753, essv6153197, essv5734640, essv6248484, essv6378374, essv5774523, essv6217013, essv6162087, essv5629370, essv5651299, essv5871666, essv5501885, essv6255658, essv5672005, essv5892215, essv6458086, essv6348171, essv5927221, essv6269967, essv6093527, essv5861535, essv6537360, essv5587844, essv6255419, essv6541361, essv6489382, essv6411746, essv6521065, essv6041611, essv5729359, essv5535653, essv5484547, essv5671426, essv5559725, essv5516542, essv6284580, essv5795880, essv5847081, essv6485303, essv5538867, essv6529154, essv6294419, essv5943953, essv5407101, essv5507575, essv5954442, essv6160118, essv6291626, essv6316044, essv5655007, essv6496677, essv5439538, essv5454629, essv5869032, essv5699643, essv5445100, essv6330015, essv5488515, essv5476365, essv5437995, essv5607019, essv6045296, essv5963319, essv6050729, essv5957352, essv5753232, essv5781929, essv5534884, essv6157110, essv6307088, essv5886896, essv5545711, essv5638640, essv6524047, essv5868054, essv6424030, essv6100698, essv6016449, essv6124047, essv6213966, essv5733873, essv6043409, essv6521615, essv6203815, essv6481637, essv5638194, essv6482852, essv5698915, essv5440889, essv6175337, essv6396978, essv5595144, essv6194992, essv6535972, essv5575281, essv6528819, essv5509016, essv6110959, essv5819420, essv6352004, essv6080460, essv6368565, essv5730743, essv5957630, essv6260795, essv5966920, essv6547962, essv6473626, essv6442425, essv5679074, essv5530797, essv6033808, essv6325683, essv5516402, essv5934547, essv6147938, essv6004032, essv5720315, essv5592658, essv5421790, essv5408409, essv5762091, essv6589268, essv6361976, essv5468692, essv6260136, essv5935130, essv5536236, essv6393189, essv5947149, essv6011283, essv5496107, essv5603464, essv5445093, essv5699448, essv5930251, essv5746281, essv6188113, essv5553534, essv6377046, essv5473849, essv5683570, essv6493043, essv5503836, essv5811762, essv6131384, essv5775454, essv6457391, essv5894666, essv5439183, essv6384570, essv6272739, essv5872735, essv5600804, essv6403723, essv5923468, essv6311296, essv6139638, essv6328391, essv5402775, essv6476735, essv5723595, essv5896425, essv5642852, essv6119251, essv5730544, essv6102093, essv6416579, essv5655416, essv6067285, essv5956145, essv6143759, essv6103697, essv5673990, essv5400191, essv5886272, essv5906004, essv5993577, essv6243421, essv5565952, essv6369996, essv5794947, essv6317513, essv6093000, essv6510787, essv5807683, essv6009387, essv6133542, essv5534230, essv5944767, essv6013955, essv5812815, essv5705750, essv6078610, essv6207947, essv5677947, essv5453857, essv5522976, essv5749232, essv6199439, essv5658228, essv6455482, essv6165044, essv6024452, essv6115781, essv5962810, essv6215423, essv6415835
SamplesNA20588, NA18502, HG00189, HG00608, HG00142, NA18947, NA19664, NA19399, NA12414, NA12843, NA11931, HG00257, HG00151, HG00233, NA20512, NA19684, NA18530, HG01518, NA19920, NA18633, NA20806, HG00337, NA12813, NA19446, HG00138, HG01350, NA19379, HG00589, NA19315, NA20589, HG01177, NA19678, HG01167, NA20756, NA20795, NA18558, NA18547, HG01492, NA18916, NA07048, NA11918, NA20768, HG00243, NA20291, NA18949, HG00158, HG00512, HG00281, NA19720, HG00335, HG01519, HG00326, NA20515, NA19789, NA20755, HG00137, NA18605, NA12489, HG00731, NA20800, NA18538, NA19070, NA19056, NA20521, HG01095, HG00657, NA20760, NA19717, NA19663, HG00344, NA19081, HG01498, NA12718, NA20519, NA18572, NA18948, NA12234, NA18537, HG01102, NA19084, HG00690, HG00404, NA12829, NA19750, NA18532, NA06989, NA19059, HG00463, NA12778, HG00126, NA18593, HG01107, HG00611, NA19652, NA18533, HG00336, NA18517, NA18564, HG00580, NA19444, NA19331, HG01174, NA19428, NA18943, NA20281, NA19360, NA12763, HG00662, NA19328, HG00614, HG00513, HG00478, NA18631, NA19779, HG00267, NA19102, NA18873, HG00112, NA20503, HG00595, NA19129, HG00628, NA18624, NA18612, NA19429, NA19074, HG01437, HG00581, NA18577, NA11832, NA20772, HG00593, HG00626, HG01060, HG00114, HG01441, NA19648, HG00592, NA19397, NA19466, NA18592, HG01052, NA18980, HG01079, HG00100, NA18507, NA11933, HG01374, HG00306, NA18603, NA12045, HG00699, NA12004, NA12058, NA20808, NA20346, HG00150, NA18526, NA12400, NA12341, NA20537, NA19068, NA19746, NA19660, NA19076, NA18550, HG00251, NA19728, NA18595, HG00702, HG00689, HG00173, NA19723, NA19916, HG00330, NA20769, HG00634, HG00610, HG01354, NA20540, NA19313, NA12287, HG00247, NA19054, NA20513, NA19681, HG00590, NA20541, HG01134, NA12282, NA19651, HG00120, HG00683, HG00106, HG00262, NA19719, NA20340, NA19371, NA19075, NA18617, NA19471, NA19087, HG00182, NA19002, NA19725, NA18520, HG00637, NA18908, NA18973, HG00530, HG00419, NA19451, NA18638, NA12748, HG00464, HG00108, NA19007, HG01136, HG00188, HG00149, HG00560, HG00629, HG01360, NA19707, NA20787, NA20524, HG00428, NA19462, NA19391, HG00475, HG00584, NA19788, NA18976, NA20770, NA20344, HG01094, HG00373, HG01197, HG01182, NA18853, HG00141, NA18576, NA19685, NA20801, HG00119, NA18535, NA11881, NA19834, NA19108, NA18952, NA18543, NA12775, HG00375, NA19732, HG00136, HG00638, NA07051, NA20504, HG00319, HG00256, NA19759, NA19376, NA19078, HG00707, HG00578, NA19248, HG00329, NA18987, NA12749, HG00174, NA20807, NA19726, HG00343, NA18552, HG00252, HG01377, NA18984, NA07056, NA18505, NA19004, HG00345, HG01097, HG00437, NA20509, NA19701, NA20761, HG00542, NA12842, NA19703, HG01462, NA19909, NA20766, NA12286, NA19066, HG00242, NA10851, NA12273, NA20783, NA20514, HG01066, NA20816, NA20752, NA20802, HG00244, NA19350, HG00181, NA19355, NA20332, NA18959, HG00737, HG00115, NA18616, HG00654, NA19443, HG01051, NA12399, NA18602, NA18988, NA18627, HG00271, NA19107, HG00663, NA20814, HG00641, NA20774, HG01168, NA18923, NA18567, NA19062, NA07347, NA19457, HG00334, HG00185, NA19904, NA19130, NA20539, NA12275, NA20518, HG00156, NA11932, HG00232, NA11994, HG00534, HG00705, NA19722, HG00118, NA18990, HG01198, HG01048, HG00253, NA18539, NA20753, HG01124, NA19908, HG00443, HG00268, HG01171, HG00282, NA19670, HG00557, HG00245, HG00732, HG00368, HG00556, HG00583, HG00263, NA18579, HG01149, HG00239, HG00740, NA19654, HG00324, NA18573, NA19461, HG00651, NA18626, HG00479, HG01101, HG00140, NA18553, HG01497, NA18555, HG00152, HG00246, NA18570, NA18858, NA12546, NA18541, HG01075, NA12043, NA18953, HG01148, NA19375, NA19003, HG00258, HG00155, HG00254, HG00265, NA20276, NA19747, HG00353, NA19072, NA12272, HG00734, NA20530, NA20527, HG01375, HG00473, NA20778, NA19679, NA19311, HG01113, NA20544, HG01137, HG00418, NA18610, NA06994, HG00259, NA19716, NA19468, NA19093, NA20510, NA18636, HG00310, NA11843, NA20758, NA19116, NA19080, NA19780, NA19711, NA19900, NA11892, NA19312, HG01125, HG00171, NA18968, NA12890, NA12006, NA20585, NA19063, NA20754, HG00553, HG01516, HG00403, NA11830, HG01521, HG00536, NA11829, HG00361, HG00524, NA19332, NA20531, HG00640, HG00367, HG00318, NA18486, HG01465, HG00103, NA19393, NA20805, NA18596, HG00566, HG00177, NA07357, HG01140, HG00327, NA18967, NA19005, HG00501, NA19448, HG00448, NA20317, NA18619, NA11992, HG00346, NA19771, NA19088, NA19138, NA19782, NA18964, NA18611, NA19404, HG01067, NA19383, NA06984, NA18977, HG01495, NA19917, NA19137, HG01072, NA19731, HG01440, HG00309, HG00427, HG00739, HG00264, NA11993, HG00260, NA18614, NA11831, HG01353, HG00313, HG00133, HG01183, NA18544, NA19437, HG01187, HG00596, HG00145, NA20505, HG00190, HG00653, HG00577, NA18956, HG00701, NA19236, NA18516, HG00436, HG00320, NA18637, NA20506, NA19658, NA18630, HG00619, HG01390, HG01073, HG00273, NA20299, NA12249, HG00525, NA12827, HG00276, NA18634, NA20534, NA18945, HG01204, NA18546, NA18608, HG00124, NA20773, NA20522, NA18909, HG01190, HG00285, NA18961, NA18941, HG00278, NA19773, NA20785, NA19334, HG01494, NA19439, NA20797, NA07037, HG00269, NA20348, NA18971, HG01491, NA19060, HG00421, HG00656, HG01254, HG01055, HG00698, NA19213, NA20528, NA19661, NA19755, NA07000, HG01112, HG00554, HG01061, NA18562, NA12776
Known GenesTDRD5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677942
Frequency
Sample Size1151
Observed Gain0
Observed Loss574
Observed Complex0
Frequencyn/a


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