A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665363



Internal ID9584782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:31332573..31332923hg38UCSC Ensembl
chr17:29659591..29659941hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38351
hg19351
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5849015, essv6360258, essv6009947, essv5752877, essv5421041, essv6479340, essv6058025, essv5819438, essv6001508, essv5508919, essv6065028, essv6268536, essv5427386, essv5550980, essv6322447, essv6514586, essv6549910, essv6414488, essv6518458, essv5752273, essv6182074, essv6433833, essv5810405, essv5497441, essv5776552, essv5857874, essv6518512, essv5969342, essv6396203, essv6540767, essv5710998, essv5634309, essv5719434, essv6081938, essv6554658, essv5576694, essv5665349, essv6466611, essv5702695, essv5666040, essv5807576, essv5559283, essv5760705, essv5654739, essv5685354, essv6175917, essv6091994, essv6014752, essv6180281, essv6299692, essv5967909, essv5602757, essv5594163, essv5676323, essv5958142, essv6077894, essv6351264, essv5679897, essv6273990, essv5479334, essv6539670, essv5503371, essv5855120, essv6340113, essv6583730, essv5759548, essv6117105, essv5605470, essv5596152, essv5871226, essv6363935, essv5458490, essv6555038, essv5603390, essv6233562, essv5933363, essv6144756, essv6295703, essv5992416, essv5865253, essv6228033, essv5432646, essv5434904, essv5448955, essv6316061, essv5962042, essv5880573, essv5613572, essv5914034, essv6202047, essv5566376, essv5947104, essv5462790, essv6103122, essv6373215, essv5421793, essv6265830, essv5525862, essv5722317, essv5787804, essv6328338, essv5411455, essv6274040, essv5458968, essv5853518, essv6131572, essv5719140, essv5564924, essv5545056, essv5869068, essv6183320, essv6285997, essv6305824, essv6314060, essv5944554, essv6082386, essv6323090, essv5553305, essv5870999, essv6244275, essv5511542, essv5686217, essv5929423, essv6046117, essv6221052, essv5509093, essv5612142, essv6493769, essv5771734, essv5982861, essv6174167, essv5486142, essv5800564, essv5771756, essv5676838, essv6332174, essv6341220, essv6493803, essv6228223, essv5806426, essv6475603, essv5670677, essv5684858, essv6515983, essv5585103, essv5627517, essv6379762, essv6189887, essv6523583, essv5769322, essv6245554, essv5448520, essv5903200, essv5530438, essv5654699, essv6457656, essv5788411, essv6255957, essv6548651, essv5815782, essv6405718, essv5907072, essv6458542, essv5491594, essv6020789, essv6148250, essv6254891, essv6451629, essv6191440, essv6572789, essv5763305, essv5947654, essv6576378, essv6459106, essv5845509, essv5716862, essv6368838, essv6455384, essv5469053, essv5935683, essv6412064, essv5429674, essv5737853, essv6147142, essv6169981, essv6339035, essv5570060, essv5607527, essv5680060, essv6373515, essv5756567, essv6577356, essv5722328, essv6012727, essv6549744, essv6122811, essv5930714, essv6186079, essv6540712, essv6242513, essv6442278, essv5518007, essv5773930, essv5916651, essv6191804, essv6052427, essv6141976, essv5910203, essv5919362, essv5502638, essv6404315, essv5751569, essv5671586, essv6057969, essv6246374, essv6249597, essv5508323, essv6286938, essv6535885, essv6079128, essv6446049, essv5649232, essv5762523, essv6000637, essv5761753, essv5807174, essv6110946, essv6553217, essv5685733, essv6212990, essv6510430, essv5478572, essv6329101, essv5515468, essv5876141, essv6260724, essv6124502, essv5636962, essv6572038, essv5502125, essv6575625, essv6523176, essv5891122, essv6056708, essv6460545, essv5462509, essv6362409, essv6142007, essv5610433, essv6183393, essv5979102, essv6586506, essv6370719, essv5516551, essv6162857, essv6342067, essv5837880, essv6247001, essv6515169, essv6331019, essv6095297, essv6279600, essv5854013, essv5478007, essv6035215, essv5513498, essv5661988, essv6524574, essv5682756, essv5761803, essv5720484, essv6125831, essv6366956, essv5984144, essv5793598, essv6150381, essv6242987, essv6128344, essv5543640, essv5648205, essv5907713, essv6264547, essv6479564, essv6234008, essv6244111, essv5887926, essv6141897, essv6445088, essv5859469, essv6013118, essv6048174, essv6128905, essv6064474, essv6523529, essv5934027, essv6093837, essv5497525, essv6045382, essv5518086, essv5687079, essv5411147, essv5480498, essv5562713, essv5533409, essv6437871, essv6583887, essv5622526, essv5767926, essv5632314, essv5680227, essv6084411, essv5919015, essv6542188, essv5441553, essv5997149, essv5421343, essv5844065, essv5840742, essv5557638, essv5760829, essv6282812, essv6412254, essv5818050, essv5856281, essv6186900, essv6579129, essv6348153, essv5525112, essv6445773, essv5898906, essv5727428, essv5486513, essv6448569, essv5787986, essv5861545, essv6206610, essv6004703, essv5976674, essv6067672, essv6210784, essv5795419, essv6522762, essv6054685, essv6230711, essv5476685, essv5484814, essv5805733, essv6245242, essv5920730, essv6256518, essv5427575, essv5855899, essv6069463, essv5685284, essv6221141, essv6359991, essv6450831, essv5406256, essv6324396, essv5405132, essv6079832, essv6321310, essv5663578, essv5973071, essv5396819, essv5407635, essv5804316, essv6584286, essv5635712, essv5746022, essv6544623, essv5505404, essv6041635, essv6329839, essv6167329, essv5466379, essv5848031, essv5953334, essv6210798, essv5604843, essv5612651, essv6425004, essv6457088, essv6502389, essv5603842, essv6511041, essv6250036, essv6112509, essv5682162, essv5857751, essv5891423, essv6496629, essv5781948, essv5851640, essv5919358, essv6588417, essv5880266, essv6115655, essv5607074, essv6335417, essv5768383, essv5473699, essv5917271, essv6057144, essv6582959, essv5796284, essv6368987, essv6476940, essv5568921, essv5791669, essv5483183, essv6444587, essv5768446, essv6257259, essv6449467, essv5403818, essv5675485, essv6071594, essv5667511, essv5745150, essv6243008, essv5783387, essv5797571, essv5945075, essv5477302, essv6199298, essv5550686, essv5814935, essv6101884, essv5740657, essv6023883, essv6233652, essv6524944, essv6148112, essv5932546, essv5795277, essv5630735, essv5576254, essv5966288, essv6500054, essv6064075, essv5646258, essv5676747, essv5943381, essv6292330, essv5769665, essv6098347, essv5454817, essv5735626, essv6457006, essv6422192, essv6438268, essv6521826, essv5894377, essv6287449, essv5730739, essv6116836, essv5561981, essv6169122, essv5681321, essv5888913, essv6340472, essv6418405, essv5432220, essv6448138, essv6587223, essv5694679, essv6159315, essv6388116, essv6526781, essv5425609, essv6053640, essv6594830, essv5946552, essv6331326, essv5921664, essv6350467, essv6080826, essv6222662, essv6347445, essv6057223, essv5957540, essv6458263, essv5842479, essv6201175, essv6392278, essv5529671, essv5708865, essv5659118, essv5972841, essv6358184, essv6486670, essv5796616, essv6201741, essv5502906, essv5414201, essv6145132, essv5686588, essv5753982, essv5510745, essv6451786, essv5673105, essv6289627, essv6388409, essv5720701, essv5876383, essv6549938, essv5728351, essv6357638, essv6524506, essv6098132, essv5697150, essv6405644, essv5988009, essv6190383, essv5917670, essv6225725, essv6170562, essv6461886, essv5849961, essv6490932, essv6463240, essv6424069, essv6450989, essv6008337, essv6390351, essv5904888, essv6546912, essv5909135, essv5430452, essv6503076, essv6515607, essv5759445, essv6182877, essv5951485, essv6040121, essv5731614, essv5768510, essv6431372, essv5791715, essv5829785, essv6166506, essv5807874, essv6027488, essv6125000, essv6112296, essv5752677, essv5597511, essv5689305, essv6585708, essv6115560, essv5584092, essv6422649, essv6225821, essv6164897, essv5978934, essv5608624, essv6245614, essv6065531
SamplesHG01357, HG01441, HG00380, NA19207, NA18870, HG00257, NA18951, NA18530, NA12286, HG00328, NA20752, HG00705, HG00112, HG00186, NA12347, NA20796, NA19311, HG01079, HG01389, HG00657, NA19359, HG00614, HG01365, HG00189, NA19788, NA19331, NA20800, HG01082, NA12828, HG00428, NA18947, HG01350, NA12005, HG00139, NA18489, NA19144, NA19379, NA12058, HG00683, HG00698, HG00111, HG00334, HG00581, HG00404, NA07051, NA19651, HG00280, HG01101, HG01168, HG00177, NA19701, NA20798, HG00319, HG00737, HG00253, HG00699, NA18505, NA18557, NA12287, NA18943, NA19761, HG01171, HG00353, NA18596, NA18628, NA18949, HG00554, HG00592, NA12414, NA19077, HG01107, NA19062, HG01550, NA19463, HG00556, HG01148, NA20505, HG00242, NA11919, NA19085, HG00346, HG01384, NA18967, NA19239, NA19076, NA19390, HG00308, NA18635, NA20811, NA18536, NA19675, HG00259, NA19197, NA19443, HG00096, NA18623, HG01048, NA19107, HG01061, NA20530, NA18617, HG01183, NA18636, HG01124, NA19088, NA12273, HG00315, NA12761, NA18956, NA19429, HG00338, NA18959, HG00533, HG00125, HG01360, NA11843, NA11831, NA11894, NA12400, NA20520, NA11995, HG00174, HG00634, NA18593, HG00276, HG00284, NA12777, NA19700, HG00343, NA12144, NA19082, NA12751, NA19000, NA19055, HG00373, HG01111, NA19395, NA19080, HG01097, NA07346, NA12716, HG01465, NA19129, NA19771, HG00233, NA19372, HG01516, HG00653, HG00640, NA20760, HG00732, NA12778, NA19384, NA19716, NA20795, NA18968, HG00263, NA12275, HG00176, NA19119, HG00265, HG00672, HG00249, NA18961, HG00277, HG01080, HG01351, NA20815, HG00740, HG00524, NA20542, NA20766, NA12283, NA20813, NA19789, HG00120, NA18940, NA19235, HG01094, HG00427, HG01137, NA18597, NA19138, NA19729, NA12272, NA20756, HG01095, NA18909, NA19201, NA20276, NA12413, NA18631, NA18544, HG01390, NA18614, NA18548, NA11830, NA20810, HG00144, HG00285, NA19225, HG00142, HG01366, NA18499, NA20543, HG00708, HG01108, NA18610, NA12045, NA20792, NA11932, NA11829, NA19130, HG01177, NA19240, HG01498, HG00275, HG00625, HG00690, NA12717, HG00641, NA19204, HG00183, HG00473, NA18981, NA20804, HG01377, NA19087, HG00702, NA18555, HG00271, NA19779, HG00126, NA19466, NA18553, HG00312, HG00327, HG00323, NA20281, NA19137, NA12827, HG01515, NA12718, HG00313, NA12043, NA19152, NA19445, HG00152, HG00318, HG00536, HG00607, NA11930, NA07037, NA20809, NA20503, HG00344, HG01072, NA20785, HG01052, HG01075, NA18561, NA20506, HG00127, HG01055, NA18952, NA18975, HG00145, HG01342, NA18612, HG00245, NA19783, NA20508, HG00310, NA18550, NA18570, NA19003, NA19072, HG00261, HG00707, NA06989, NA12340, NA19670, NA11931, NA19317, NA12813, HG00117, NA20808, HG01492, NA18972, NA20816, NA20529, HG00375, NA20342, HG00326, HG01491, NA18573, NA19782, HG00270, HG00553, HG00190, HG00122, HG00106, HG00701, NA20588, HG01204, NA19648, HG00651, NA19004, NA19678, HG00366, NA11893, NA19108, NA18965, NA19355, NA19474, NA19780, NA12044, HG01551, NA18873, NA19776, HG00479, NA19654, HG01133, NA18632, NA20770, HG00342, NA20532, HG00115, HG00543, HG00154, NA18559, HG00321, HG00339, NA19726, NA19982, NA12843, NA20533, NA18624, HG00179, HG01456, NA19059, NA20819, NA12282, NA20356, NA20515, NA19652, HG00583, NA19068, HG00140, HG00638, NA18563, NA07357, NA20504, HG00610, HG00231, HG00372, NA20801, HG01047, NA20754, HG00141, HG00628, HG00330, NA07048, NA18638, NA19440, NA19066, NA11933, NA20541, HG00150, HG00419, HG00258, NA12829, NA18976, HG01136, NA18973, NA20336, HG00264, HG00637, NA18982, NA19681, HG00254, NA19056, NA19663, NA19679, NA12830, HG00357, HG00237, HG00584, HG00133, NA18539, NA20773, HG00114, HG01497, NA12006, HG00159, NA19153, HG00124, NA12046, NA18537, NA19172, NA18572, HG00268, HG01066, NA19375, NA19393, NA20126, NA20512, HG00629, NA20826, NA18486, HG00559, NA06986, NA20334, NA20344, HG00260, NA19731, NA20540, HG01073, NA18558, NA18977, NA19098, HG00239, HG00282, HG00232, HG01176, NA18504, NA20814, NA20818, HG00478, NA18858, NA18942, HG00116, NA20828, NA18613, HG00513, NA20582, HG00153, HG00329, HG00512, HG01070, NA19707, HG00246, NA19159, HG01060, NA18579, NA18974, HG00589, NA18945, NA18606, NA18543, HG00151, NA18999, HG00595, NA18552, NA18983, HG00443, NA18599, NA18567, NA19078, HG00611, HG01334, NA12749, HG00650, NA06984, NA18867, NA18565, HG00138, HG00663, NA12156, HG00262, NA18560, NA18989, HG00580, HG01112, NA18971, HG00311, HG00448, NA19446, NA20509, NA20507, NA20513, NA18533, NA11992, NA12003, HG00281, NA19063, NA18917, NA11993, NA12399, NA19399, HG00656, NA12842, NA19160, NA19655, NA18571, HG00422, HG01251, NA19070, NA19470, HG00367, HG00693, NA18611, HG01125, HG00251, HG00324, NA20528, NA18532, NA18549, NA18853, HG01374, HG01102, HG01462, HG01489, NA19079, NA20524, HG00684, HG00143, HG01110, NA19758, HG00336, HG00476, NA20502, NA20517, HG00272, NA19468, NA20538, NA19200, HG00278, NA20519, HG00136, NA19065, NA07000, HG01067, HG00361, NA19012, NA11881, HG00309, HG00157, NA12489, HG00537, HG00252, NA18605, NA07347, NA20787, NA18520, NA20771, NA20527, NA18534, HG01353, HG01519, NA19819, NA11920, HG00171, NA19209, NA20535, HG00155, NA20531, NA10847, NA18545
Known GenesNF1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665363
Frequency
Sample Size1151
Observed Gain0
Observed Loss559
Observed Complex0
Frequencyn/a


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