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 Variantsessv5510745, essv6065531, essv5612142, essv6201175, essv6515169, essv5479334, essv5914034, essv5694679, essv6535885, essv6295703, essv6254891, essv5722328, essv6001508, essv6191804, essv5484814, essv5676323, essv6366956, essv6490932, essv6212990, essv5947104, essv5469053, essv5502638, essv5434904, essv6449467, essv5854013, essv5570060, essv5497441, essv6064075, essv5486513, essv6587223, essv5550980, essv5865253, essv5849015, essv6448138, essv6228033, essv6144756, essv6169981, essv5458968, essv5559283, essv6414488, essv6368987, essv6540767, essv6457006, essv6260724, essv5685733, essv5630735, essv5515468, essv6339035, essv6186900, essv5944554, essv5848031, essv5869068, essv6201741, essv6390351, essv6305824, essv6115655, essv5478007, essv6404315, essv6122811, essv6023883, essv6431372, essv5607074, essv5476685, essv6515983, essv6162857, essv6182074, essv6523583, essv5730739, essv6575625, essv6524944, essv5648205, essv6046117, essv5921664, essv5483183, essv6250036, essv5851640, essv5751569, essv6583887, essv6526781, essv5603842, essv5425609, essv6257259, essv5972841, essv5477302, essv5613572, essv5761803, essv6150381, essv6348153, essv5508919, essv5807174, essv5684858, essv5663578, essv6079128, essv6422192, essv6373215, essv6340472, essv6424069, essv5513498, essv6125000, essv5679897, essv6572038, essv5917271, essv6442278, essv5603390, essv5702695, essv6128905, essv5909135, essv5516551, essv5478572, essv6479564, essv6255957, essv5612651, essv5727428, essv5982861, essv5837880, essv5636962, essv5682756, essv5686588, essv5907072, essv5752877, essv6054685, essv6233652, essv6331019, essv5796616, essv5859469, essv5814935, essv6457656, essv6329839, essv6392278, essv5791715, essv5441553, essv5966288, essv5829785, essv6514586, essv5491594, essv5904888, essv6450831, essv6292330, essv5930714, essv5632314, essv6225821, essv6052427, essv6008337, essv6065028, essv6112509, essv5708865, essv5760705, essv5407635, essv6141897, essv6412064, essv6071594, essv6125831, essv5768510, essv6347445, essv5946552, essv6174167, essv5543640, essv6388116, essv5894377, essv6594830, essv6586506, essv6510430, essv5819438, essv6476940, essv5427386, essv5518007, essv5566376, essv6279600, essv6461886, essv5776552, essv5731614, essv6082386, essv5815782, essv6004703, essv5855899, essv6350467, essv6077894, essv5919362, essv5659118, essv5480498, essv6314060, essv6191440, essv6555038, essv6328338, essv6503076, essv6549910, essv6225725, essv6285997, essv6515607, essv5976674, essv5676838, essv6539670, essv6268536, essv6274040, essv5403818, essv5871226, essv6020789, essv5676747, essv5597511, essv5891122, essv5771756, essv5753982, essv5673105, essv5411455, essv6322447, essv5876141, essv6463240, essv6167329, essv5849961, essv5796284, essv6321310, essv6323090, essv6145132, essv5929423, essv6588417, essv5752273, essv6180281, essv6460545, essv6572789, essv6190383, essv5680060, essv5429674, essv5945075, essv6368838, essv5781948, essv5518086, essv6405644, essv5473699, essv5951485, essv6324396, essv5462790, essv5529671, essv6373515, essv5710998, essv6448569, essv6243008, essv5807576, essv6388409, essv6170562, essv5760829, essv5610433, essv6101884, essv5458490, essv5594163, essv5807874, essv5759445, essv5533409, essv5903200, essv5576254, essv5791669, essv6540712, essv5562713, essv5887926, essv5511542, essv5719140, essv6189887, essv5857874, essv6265830, essv6147142, essv5421041, essv6234008, essv5992416, essv6148250, essv6466611, essv6282812, essv6230711, essv5857751, essv6098347, essv5979102, essv5853518, essv6554658, essv5466379, essv6523529, essv6340113, essv5525862, essv5876383, essv6206610, essv6360258, essv6056708, essv6221141, essv6576378, essv6080826, essv6445088, essv5525112, essv5978934, essv5671586, essv6357638, essv5947654, essv5888913, essv5686217, essv6549744, essv6000637, essv5666040, essv6445773, essv5756567, essv5722317, essv6438268, essv5861545, essv6523176, essv5720484, essv5502125, essv5728351, essv6264547, essv5752677, essv6458542, essv5557638, essv5761753, essv5984144, essv5607527, essv5845509, essv6546912, essv6451629, essv6249597, essv6124502, essv6286938, essv5856281, essv5654739, essv5530438, essv6183393, essv6222662, essv5670677, essv5934027, essv6035215, essv6048174, essv5486142, essv6316061, essv5917670, essv5405132, essv6081938, essv5550686, essv5689305, essv6359991, essv6131572, essv6329101, essv6418405, essv5432646, essv5795277, essv6577356, essv5818050, essv5810405, essv5935683, essv5502906, essv6045382, essv5448520, essv5767926, essv5585103, essv5769322, essv6585708, essv5561981, essv5697150, essv5685284, essv5634309, essv6244111, essv6500054, essv5737853, essv6246374, essv6335417, essv6210784, essv6116836, essv5649232, essv5646258, essv5602757, essv6242987, essv6396203, essv5462509, essv5553305, essv5687079, essv5411147, essv5681321, essv6041635, essv6245614, essv5795419, essv6159315, essv5661988, essv5880573, essv5759548, essv6433833, essv6331326, essv6548651, essv6502389, essv6110946, essv6247001, essv6141976, essv5787804, essv5855120, essv5973071, essv6518458, essv5680227, essv5787986, essv6444587, essv6486670, essv6186079, essv6142007, essv6522762, essv6475603, essv5627517, essv6013118, essv6084411, essv6175917, essv5421343, essv5448955, essv6544623, essv5427575, essv5414201, essv6093837, essv6358184, essv6553217, essv6128344, essv6459106, essv6362409, essv6579129, essv6496629, essv5745150, essv6582959, essv6009947, essv5667511, essv5685354, essv5842479, essv6518512, essv5421793, essv6332174, essv5783387, essv6493803, essv5771734, essv5910203, essv5716862, essv5584092, essv6446049, essv6115560, essv5720701, essv6379762, essv6425004, essv6542188, essv5608624, essv6458263, essv6058025, essv6342067, essv5932546, essv5768446, essv5564924, essv6584286, essv6583730, essv6182877, essv5907713, essv6233562, essv5788411, essv5768383, essv5953334, essv5988009, essv6341220, essv5919015, essv5432220, essv6370719, essv6405718, essv5916651, essv5957540, essv5762523, essv5454817, essv6228223, essv5844065, essv6164897, essv6524574, essv5793598, essv6014752, essv6363935, essv6287449, essv6053640, essv6027488, essv5596152, essv5933363, essv5967909, essv5568921, essv6057144, essv5746022, essv5605470, essv6057969, essv6479340, essv6148112, essv5919358, essv5497525, essv6095297, essv5719434, essv5735626, essv5505404, essv6457088, essv5545056, essv6299692, essv6524506, essv5962042, essv6437871, essv6012727, essv5997149, essv5509093, essv5870999, essv6450989, essv6412254, essv5503371, essv6493769, essv5665349, essv6256518, essv6422649, essv6451786, essv5797571, essv6549938, essv6040121, essv6221052, essv6079832, essv6242513, essv5406256, essv5840742, essv6273990, essv6245554, essv6117105, essv6091994, essv6455384, essv6057223, essv6098132, essv6166506, essv6202047, essv6210798, essv5891423, essv5740657, essv5654699, essv5804316, essv5635712, essv6511041, essv6169122, essv6521826, essv5773930, essv5604843, essv5396819, essv6067672, essv6064474, essv5763305, essv5430452, essv5898906, essv5682162, essv5969342, essv6183320, essv5958142, essv5920730, essv6245242, essv5508323, essv6069463, essv6244275, essv5800564, essv5943381, essv6351264, essv5675485, essv6103122, essv6199298, essv5769665, essv5806426, essv5805733, essv5622526, essv6289627, essv6112296, essv5880266, essv5576694
SamplesNA20588, HG00189, HG00650, NA20529, HG00142, NA18947, NA19399, NA12414, NA12843, NA11920, NA11931, HG00257, HG00151, NA18999, HG00233, NA20512, NA12751, HG00153, NA18504, NA18530, NA12813, NA19446, HG00138, HG01350, NA19379, HG00589, HG00122, NA20798, HG01177, NA19678, NA20756, NA20795, NA18558, HG01492, NA07048, HG01365, NA19384, HG00537, HG00311, NA19079, NA18949, HG00512, HG00281, HG00139, HG01519, NA19172, NA19239, HG00326, HG00323, NA18867, HG01550, NA20515, NA19789, NA12777, NA18951, NA18605, NA20535, NA12489, NA20800, NA19070, NA19056, HG01095, HG00657, NA20810, NA20760, NA19663, HG00344, HG01498, NA12718, NA20519, NA18572, NA18981, NA18548, NA18537, HG01047, HG01102, HG00690, HG00404, NA12829, NA11893, NA18532, NA06989, NA19059, HG01334, NA12778, NA19395, HG00126, NA18593, HG01107, NA19729, HG00611, NA19652, NA19440, NA18533, HG00336, NA18628, HG00580, NA19331, NA20520, NA19470, HG00116, NA18943, NA20281, HG01342, NA12347, HG00614, HG00513, HG00478, NA18631, NA19779, NA18873, HG00112, NA20826, NA20503, HG00595, NA18989, NA19129, HG00628, NA18624, NA19065, NA18612, NA19429, HG00581, HG00096, HG01060, HG00114, HG01441, NA19648, NA19700, HG00592, NA19055, NA19466, NA11995, HG01052, HG01079, NA18561, NA11933, NA18599, HG01389, HG01374, NA20813, NA12045, HG00699, NA19819, NA12058, NA20808, HG00150, NA20507, NA19098, NA12400, NA12413, NA19068, NA19076, NA18550, HG00251, NA18489, HG00702, NA18635, HG00330, HG00634, NA18942, HG00610, NA19197, NA20540, NA12287, NA20513, NA19681, NA20336, HG01110, NA20541, NA12761, NA12282, HG00277, NA12005, NA19651, HG00120, HG00683, HG00106, HG00262, NA18560, NA18617, HG01176, NA19087, NA19159, NA18520, HG00637, HG00338, NA19209, NA12828, NA18973, HG00419, NA18638, NA20818, HG00543, HG01136, NA18613, HG00629, HG01360, HG00183, HG00176, NA19082, NA19707, NA20787, NA20524, HG01384, NA19077, HG00428, NA20809, NA19982, HG00584, NA19788, NA18976, NA20770, NA20344, NA19776, HG01094, NA19000, NA19655, HG00373, NA18499, NA18853, NA19225, NA20828, HG00141, NA19160, NA18536, NA20542, HG00476, NA20801, NA11881, NA19108, NA18952, NA18543, NA18559, HG00375, HG00136, HG00638, NA07051, HG00607, NA20504, HG00319, HG01108, HG00125, NA19078, HG00707, HG00672, HG00312, NA20582, HG00329, NA12749, HG00174, NA12830, NA19726, NA18972, HG00343, NA18552, HG00372, HG00252, HG01377, NA18505, NA19004, HG01097, NA18549, NA19153, NA20509, NA19701, NA12717, NA12842, HG00143, HG01462, NA20766, NA12286, NA20508, NA19066, HG00242, NA19204, HG00559, NA12273, NA18565, HG01066, HG00315, NA20816, NA20752, NA19359, NA19355, NA12340, NA18959, HG00737, HG00115, NA20517, NA19443, NA20356, HG00261, NA20771, NA12399, HG00693, HG00271, NA19107, HG00663, NA20814, NA07346, NA18563, HG00641, NA18940, HG00272, NA18597, HG01351, HG01168, NA18567, NA19062, NA07347, NA18571, HG00334, NA19130, NA11930, NA12275, HG01080, NA12156, NA11932, HG00232, NA19372, NA12044, NA19235, NA19207, HG00705, NA18557, HG01048, HG01133, NA20342, HG00253, NA18539, HG01124, HG00154, HG00443, HG00268, HG01171, HG00380, HG00282, NA19670, HG00245, HG00732, HG00556, HG00583, HG00263, HG00275, NA18579, NA18534, HG00239, HG00740, NA19654, HG00324, HG00284, NA18573, NA11919, HG00651, HG00479, HG00684, HG01101, HG00140, NA18553, HG01497, HG00144, NA19761, NA18555, HG00152, NA12144, HG00246, NA18570, NA18858, HG01075, NA19012, NA18974, NA12043, HG01148, NA19375, NA19003, HG00258, NA18632, HG00155, HG00254, NA19390, HG00265, HG00625, NA20276, HG00353, NA20815, NA19072, NA12272, HG01551, HG01357, NA20530, NA20527, HG00473, NA20792, HG00237, NA19679, NA19311, HG01137, NA19783, NA18610, HG01489, HG00339, HG00259, HG00342, NA19716, NA19468, NA19474, NA18636, HG00310, HG00280, NA11843, NA19080, NA19780, NA18983, NA20502, HG01111, HG01125, HG00171, NA18968, NA12006, NA19463, NA18623, NA19063, NA20754, HG00553, HG01516, NA11830, NA20543, HG00536, HG00231, HG00249, NA11829, HG00361, HG00524, NA20531, NA20532, NA18917, HG00640, HG00367, HG00318, NA18486, HG01465, NA18545, NA19393, NA18596, HG01456, NA18606, HG00179, HG00177, NA18870, NA07357, HG00327, NA18967, HG00127, NA20796, HG01366, HG01070, NA19201, HG00448, NA19119, NA18982, NA11992, HG00346, NA12283, NA19771, NA19088, NA19138, HG00270, NA19782, NA18611, HG01067, NA20819, NA06984, NA18977, NA19137, HG01072, NA19731, HG00422, NA19317, HG00309, HG00427, NA20811, HG00159, NA19445, NA18975, NA20533, NA19200, HG00264, NA11993, HG00260, NA18614, NA11831, NA10847, HG01353, HG00313, HG00133, HG01183, NA18544, HG00145, HG00328, NA20505, NA12003, NA19152, HG00190, HG00653, NA18956, HG00701, HG01515, HG00533, NA20506, NA20126, HG00708, HG01390, HG01073, NA11894, NA20538, HG00117, HG00321, HG00157, NA12827, HG00276, NA19675, NA18945, HG01204, HG00124, NA20773, NA12716, NA18909, HG00285, NA18961, HG00366, HG00357, NA20804, NA19240, HG00278, NA19144, NA20785, NA12046, HG00308, NA07037, NA19085, NA06986, HG00111, NA18971, HG01491, HG00656, NA20334, HG01055, HG00186, HG00698, NA20528, HG01251, HG01082, NA19758, NA07000, HG01112, HG00554, HG01061, NA18965
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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