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 Variantsessv5762091, essv5572974, essv6248484, essv5962810, essv5641845, essv5911809, essv5698897, essv6510503, essv6165044, essv5801182, essv5516542, essv6284580, essv5463460, essv6083224, essv5794897, essv5966920, essv5973486, essv5677947, essv5441432, essv5775454, essv6457391, essv5453767, essv6208673, essv5616414, essv6013955, essv5503493, essv5846139, essv6191078, essv6090564, essv6115238, essv6567182, essv6310477, essv6102093, essv5678141, essv5445093, essv5490850, essv6172052, essv6492127, essv5655416, essv5934547, essv6211753, essv5688453, essv5946399, essv6396978, essv6366306, essv5468692, essv5798138, essv5726292, essv6368565, essv6199439, essv6131384, essv5664432, essv6216152, essv5947149, essv6473626, essv5869032, essv6503870, essv5629370, essv5440889, essv6524047, essv6334647, essv5557138, essv5531662, essv5465943, essv6541361, essv5729852, essv5553534, essv6489642, essv6587277, essv6377862, essv6103697, essv5883666, essv6116491, essv5510974, essv6326933, essv5517799, essv5749232, essv5838653, essv5628581, essv5943953, essv6301951, essv6115781, essv5570392, essv5402775, essv6442234, essv6255468, essv6291463, essv5661935, essv5575281, essv5550803, essv6059773, essv5496107, essv5733873, essv5427061, essv5594782, essv6192653, essv6311296, essv6024832, essv6080460, essv5908217, essv5909846, essv6387655, essv6160402, essv5454629, essv6535972, essv5453857, essv5638640, essv5408002, essv5572844, essv6426642, essv5625221, essv6307599, essv5906004, essv5541585, essv5503986, essv5742310, essv5792120, essv5500218, essv5794947, essv6133542, essv6261698, essv5603464, essv5439183, essv6024452, essv5607019, essv5971114, essv6001643, essv6441326, essv6079264, essv6594191, essv5895256, essv5591965, essv6286289, essv6175337, essv6521065, essv6398086, essv5436390, essv5464505, essv5894666, essv6256845, essv5954442, essv6396998, essv6295960, essv6035638, essv6529154, essv5884538, essv5927221, essv6096709, essv5873294, essv5930251, essv5944767, essv5560049, essv5655007, essv6293423, essv6592409, essv5638194, essv6530187, essv5516402, essv5868573, essv5914719, essv5549647, essv6435525, essv6357269, essv6584433, essv6497337, essv6262738, essv6303315, essv5894873, essv5632145, essv6557546, essv6416579, essv5414108, essv6372950, essv5705815, essv6230222, essv5827604, essv5484547, essv5616702, essv6004032, essv5476365, essv6318391, essv6415835, essv5414837, essv5438209, essv6317513, essv6203323, essv6469720, essv5596848, essv5634103, essv6458086, essv5811937, essv6242522, essv5554786, essv5706254, essv6348171, essv6264853, essv5512437, essv6376314, essv6411746, essv5985290, essv6386746, essv6547962, essv6453867, essv6424030, essv6223240, essv6207947, essv6514217, essv5672005, essv5522976, essv5677507, essv6332462, essv6461187, essv6203815, essv5706388, essv6134909, essv5886896, essv5469228, essv6093511, essv5454021, essv5432831, essv5534884, essv6463736, essv5972616, essv5412871, essv5624502, essv6287911, essv6482279, essv5592658, essv5651142, essv5720315, essv5892215, essv5567732, essv5942128, essv6100698, essv6307088, essv5640537, essv5529093, essv6485303, essv5962287, essv6291626, essv6084646, essv6067285, essv5658135, essv6521615, essv5796113, essv5538867, essv6296264, essv5717792, essv6454080, essv5769267, essv5682492, essv6318854, essv5754901, essv5812815, essv5535653, essv5813505, essv5429749, essv6523744, essv6209964, essv6160118, essv5957352, essv6505212, essv5766927, essv5489227, essv5868054, essv6489382, essv6455482, essv5787419, essv6064333, essv5791914, essv5780869, essv6126200, essv5811762, essv6493043, essv5699448, essv5723595, essv5898171, essv6149096, essv5605885, essv5661477, essv6220850, essv6077283, essv6076492, essv5699643, essv5595144, essv6316044, essv6473759, essv6091931, essv6024402, essv5769493, essv6162087, essv6222509, essv5651299, essv6012248, essv6041568, essv5518436, essv6537360, essv6269967, essv5708791, essv5705750, essv5730544, essv5761017, essv6204139, essv6045296, essv5729048, essv5951564, essv6294419, essv5565952, essv5963319, essv5729359, essv6201950, essv5774523, essv5637149, essv5940744, essv5886272, essv5872735, essv5437995, essv5634454, essv5507575, essv5530797, essv5923241, essv5593675, essv6475653, essv6108875, essv6528819, essv6454993, essv5683570, essv6509081, essv6397774, essv6413795, essv5679074, essv6442425, essv6068980, essv6255419, essv6188436, essv6496677, essv5686145, essv5752165, essv5460762, essv5533647, essv5798072, essv6255658, essv5795880, essv5668596, essv6064030, essv6451675, essv6325683, essv6228492, essv5488515, essv6568603, essv5513466, essv6510787, essv5424761, essv5776691, essv5735251, essv6527470, essv5437222, essv6542289, essv6378374, essv6419575, essv6186974, essv6038258, essv6375640, essv6570037, essv6384570, essv6361976, essv6163519, essv6031894, essv6173055, essv6328391, essv6344267, essv5698915, essv5730743, essv5407527, essv5969322, essv6352004, essv5935130, essv6272739, essv6596984, essv5517593, essv5441382, essv5536236, essv6093000, essv6322719, essv5896425, essv6016449, essv6156595, essv6439942, essv5829335, essv5755607, essv6092476, essv6161212, essv6379028, essv6153197, essv6254087, essv5987043, essv6063319, essv6000259, essv6330015, essv5439538, essv5769436, essv6532244, essv6050729, essv6253307, essv5670415, essv5997057, essv5890888, essv6068277, essv6126370, essv6355343, essv6570527, essv6115613, essv6041611, essv6369996, essv5493734, essv6482852, essv5445100, essv5662882, essv5559725, essv5966498, essv5731634, essv5673990, essv6009387, essv5587844, essv6426204, essv5447713, essv6565507, essv5421790, essv5823507, essv5503836, essv5693926, essv6119251, essv6033808, essv6289853, essv6278543, essv6036236, essv5426552, essv5475648, essv6124047, essv5753232, essv5957630, essv6480369, essv5400191, essv5480602, essv5816385, essv6028946, essv6162500, essv5663647, essv5532553, essv6072813, essv5978781, essv5658228, essv6109464, essv6596204, essv6457389, essv6154580, essv5943425, essv6109778, essv6237114, essv6151814, essv6155213, essv6040542, essv6060432, essv6317061, essv6510889, essv5637542, essv6393189, essv5474540, essv5956145, essv6291913, essv6139638, essv6042034, essv6253800, essv6398945, essv5465160, essv6585755, essv5671426, essv5880432, essv6157110, essv5727499, essv5600804, essv5993577, essv6476735, essv6589268, essv6100961, essv6260795, essv6066165, essv5501885, essv6215423, essv6186411, essv6421368, essv6429710, essv6592815, essv5832522, essv6331076, essv5800007, essv5951962, essv5731931, essv6078610, essv6453401, essv5809558, essv5973688, essv6202090, essv6348475, essv6243421, essv6093527, essv5709782, essv6260136, essv6213966, essv5727777, essv6548099, essv5556833, essv5974446, essv6110959, essv6011283, essv6143759, essv6330490, essv5534297, essv5800124, essv6147938, essv6038514, essv5509016, essv6384018, essv6076360, essv5871666, essv6377046, essv6393491, essv6032101, essv5819420, essv6349759, essv6517671, essv5941535, essv6217013, essv5861535, essv5746281, essv5842570, essv5807683, essv6436939, essv6194992, essv5591396, essv5417373, essv5545711, essv6453498, essv5642852, essv5734640, essv5841143, essv5473849, essv5923468, essv5407101, essv5534230, essv6185823, essv6481637, essv6007952, essv6043409, essv6420575, essv6314189, essv5562497, essv5853040, essv5547834, essv6451996, essv6458774, essv5576810, essv6188113, essv5658133, essv6488391, essv6248090, essv5781929, essv6391308, essv5468352, essv5408409, essv6306515, essv5847081, essv5999160, essv6403723
SamplesHG01441, NA19248, NA19312, HG01440, HG00257, NA18530, NA18535, NA12286, NA19081, NA20752, HG00705, HG00437, HG00112, HG00464, NA19093, NA20544, NA19311, NA11918, NA20346, HG01079, HG00463, NA18516, NA19334, HG00189, HG00577, NA19788, NA19331, NA20800, NA18953, NA18517, HG00428, NA18947, HG00542, HG01350, HG00739, NA18541, NA18546, NA19379, HG01167, NA12058, NA18507, NA20539, HG00683, HG00698, NA20805, HG00334, HG00581, NA19685, HG00404, NA07051, NA19651, HG00335, HG01101, HG01134, HG01168, HG00177, NA19701, NA19236, HG00319, HG00737, HG00253, HG00699, NA18505, NA20755, NA12287, NA20521, HG00156, NA18943, HG01171, HG00353, NA18596, NA18949, NA20340, HG00269, HG00554, HG00592, NA12414, HG01107, NA19062, HG00158, HG00556, HG01148, NA20505, HG00242, NA12763, HG00346, NA18967, NA18627, NA19076, HG00593, HG01375, HG00421, NA12004, NA19917, HG00259, NA19443, NA19471, HG01048, NA19107, NA19444, HG01061, NA20530, NA18617, NA18990, HG01183, NA18636, HG01124, NA18592, NA19088, NA12273, NA18956, NA19429, NA19908, HG00149, NA18959, HG01360, NA11843, NA11831, NA12400, NA18637, NA19075, NA18916, HG00174, HG00634, NA18593, HG00243, HG00276, HG01187, NA19457, NA12234, HG00343, HG00662, NA19728, NA20769, HG00306, HG00373, NA19360, NA19725, HG00267, NA19313, HG01437, NA19080, HG01097, HG01465, NA19129, NA19771, HG00233, HG01516, NA18633, NA20291, HG00653, HG00640, NA20760, NA20348, HG00732, NA12778, NA19716, HG00185, NA20795, NA18968, NA19102, HG00263, NA20753, NA12275, NA19005, NA19002, NA19664, HG00265, HG00501, NA11892, NA18961, HG00103, HG00740, NA20797, HG00524, HG01494, NA19720, HG00534, NA20766, HG00525, NA19328, NA19711, NA19789, HG00120, HG01094, NA18619, NA18987, NA12890, HG00427, HG01137, HG01190, NA19138, NA19376, NA12272, NA20756, HG01095, NA18909, NA19391, NA19723, NA20276, NA18538, NA20518, NA19116, NA18631, NA19747, HG00118, NA18544, NA19755, HG00608, HG00654, HG01390, NA18614, HG00530, NA20317, NA11830, HG00285, NA12546, HG00142, NA19732, NA19371, NA18610, NA20758, NA12045, NA19315, NA11932, HG00566, NA11829, NA19130, HG01177, HG00119, HG00320, HG01498, HG00690, HG00641, HG00473, NA19350, NA18908, NA20806, HG00626, HG01377, NA19087, HG00702, NA18555, HG00271, NA19661, NA19779, HG00126, NA19466, NA19746, HG01354, NA18553, HG00327, NA20281, NA19137, NA12827, NA18964, NA12718, HG00313, NA12043, HG00152, HG00734, HG01518, NA12249, HG00318, HG00536, NA20514, NA12748, NA07037, NA20522, NA20503, HG00344, HG01072, NA20785, HG01052, HG00100, HG01075, NA20506, NA19404, HG01055, NA18952, HG00145, NA07056, NA18612, HG00731, HG00245, HG00596, NA19060, HG00310, NA18550, NA18570, NA19003, NA19072, HG00707, NA06989, NA20299, NA20802, NA18948, NA19670, NA11931, NA12813, NA20808, HG01492, NA19451, NA20816, HG00375, HG00173, HG00326, HG01491, NA18573, NA18608, NA20778, NA19782, HG00553, NA19461, HG00190, HG01182, HG00106, HG00701, NA19834, NA20588, HG01204, NA12776, NA19648, HG00651, NA19004, NA19678, HG00557, HG00578, NA19108, NA19355, NA19084, NA19780, NA12341, NA18873, HG00188, NA18626, HG00479, NA19654, HG00247, HG01521, HG00256, NA20770, HG00244, HG00115, HG01254, NA19726, NA20761, NA19428, NA20585, NA19383, NA12843, NA18624, HG01140, NA19054, NA19059, NA12282, NA20515, NA19652, HG00583, HG00337, NA11994, NA19068, NA19660, HG00140, HG00638, NA18576, NA07357, NA19900, NA20504, NA19722, HG00610, NA20783, HG01495, NA20801, NA20807, HG00689, NA20754, HG00141, HG00628, NA19397, HG00330, NA07048, NA18638, NA19066, NA11933, NA20541, HG00150, HG00419, NA18547, HG00258, NA12829, NA18976, HG01113, HG01136, NA18973, HG00264, NA19773, NA19658, HG00637, NA19681, HG00254, NA19056, NA19663, NA19679, HG00403, NA18634, NA20589, HG00584, NA19684, HG00133, NA18539, NA20773, HG00114, HG01497, NA12006, NA19213, HG00436, HG00124, HG00108, NA18537, NA19759, NA18572, NA19703, HG00268, HG01066, NA19375, NA19393, NA20512, HG00629, NA18923, NA18486, NA20344, HG00260, NA18502, HG00560, NA19731, NA20540, HG01073, NA18558, NA18977, HG00239, NA18941, HG00273, HG00282, HG00232, NA20814, HG00478, NA18564, NA18858, NA20774, NA19332, NA19909, HG00513, NA18988, HG00329, HG00512, NA19707, HG00246, NA18562, NA19074, HG01060, NA18579, NA19462, HG00589, NA18945, HG01149, NA18543, HG00151, NA11832, NA10851, NA20537, HG00590, HG00595, NA18552, NA20534, HG00443, HG00181, NA18567, NA19078, HG00611, NA12749, NA20332, NA06984, HG00138, HG00663, HG00262, HG00580, HG01112, NA19719, NA18971, HG00448, NA18602, NA18577, NA19446, NA20509, NA20513, NA18533, NA11992, HG00281, NA19063, NA11993, NA12399, NA19399, NA19717, HG00656, NA12842, NA19916, NA19070, HG00367, NA18984, NA18611, HG01125, HG00251, NA20768, HG00324, NA20528, NA18532, NA18853, HG01374, HG00137, HG01102, HG01462, NA20524, NA06994, HG00336, NA19448, NA20772, HG00345, NA19468, NA19750, HG00278, NA19007, NA20519, HG00136, NA07000, NA12775, NA18980, HG01067, NA19439, HG00361, HG01198, NA11881, HG00309, NA12489, HG00252, NA18605, NA07347, NA20787, NA18520, NA18595, NA18616, HG00182, NA19904, NA20527, HG00619, HG01353, NA18630, HG00418, HG01519, NA19437, HG00171, NA20510, NA18526, HG00155, NA20531, NA18603, HG01197, HG00657, HG00614, HG01051, HG00475, HG01174, HG00368, NA19920
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


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer