A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658035



Internal ID9577454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:3997014..3997471hg38UCSC Ensembl
chr18:3997014..3997471hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38458
hg19458
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5471982, essv6248214, essv5625121, essv6521248, essv5599781, essv5725489, essv5405034, essv5981915, essv5562554, essv6423282, essv6371823, essv5759330, essv6305960, essv6525984, essv6492233, essv6341829, essv5839134, essv6389934, essv5581232, essv5864662, essv5680970, essv6336046, essv5594229, essv6010442, essv6512275, essv5791241, essv5484191, essv6272181, essv5668374, essv6393923, essv6373849, essv6006059, essv5744683, essv6474735, essv5877117, essv6013141, essv5534079, essv5885210, essv5631029, essv5461124, essv5846871, essv6202863, essv6449728, essv5691437, essv5510759, essv6013226, essv5559705, essv6553196, essv6161261, essv6590765, essv5728300, essv5406642, essv5980179, essv5557462, essv5618305, essv6494337, essv6121537, essv6495047, essv6032847, essv5447469, essv6033911, essv6310601, essv6294546, essv5731493, essv6512561, essv5559604, essv6290789, essv5840458, essv5440039, essv6425236, essv5794782, essv6379151, essv5504083, essv6550727, essv5409709, essv5681783, essv6303897, essv5784740, essv5865566, essv6106912, essv6102171, essv6154913, essv5595080, essv6166210, essv6144384, essv5657921, essv5742754, essv5841192, essv5410696, essv5823843, essv5632010, essv6594588, essv5864159, essv5438797, essv5812007, essv5850199, essv5685560, essv6486162, essv5553836, essv6147884, essv5718097, essv5907888, essv6155634, essv6305821, essv5410203, essv6277218, essv6151824, essv6116456, essv5931011, essv6344494, essv6034804, essv5702046, essv6067375, essv5542234, essv5684425, essv5996349, essv5684979, essv6086214, essv6028478, essv5723667, essv6205194, essv6132225, essv5832590, essv6357048, essv6052335, essv6055511, essv5676284, essv6292944, essv5854192, essv5611328, essv6147490, essv6117560, essv5670434, essv6443367, essv6040274, essv5882697, essv6491934, essv6224774, essv6433910, essv5864928, essv6568702, essv5614065, essv5755115, essv5395753, essv5955841, essv5564620, essv6548408, essv6295796, essv5802761, essv5543055, essv6357495, essv6230348, essv5628515, essv6417937, essv5419442, essv5800226, essv6239396, essv6359722, essv5794814, essv5622912, essv6507246, essv6180789, essv5627753, essv5995107, essv6531022, essv6462967, essv5573602, essv6369396, essv6137548, essv6588742, essv5914158, essv5773946, essv6537585, essv6480480, essv6330094, essv5810090, essv5495595, essv6508956, essv6234511, essv6587188, essv6177225, essv6580813, essv6500743, essv5911933, essv5932297, essv6286010, essv5945113, essv6308010, essv6068235, essv5606318, essv6452305, essv6377696, essv6122169, essv5577399, essv5735497, essv6065218, essv5628275, essv5644285, essv6004913, essv5772206, essv5527300, essv5674362, essv5711322, essv6515665, essv6372761, essv5423741, essv5748894, essv6150050, essv5465886, essv5811386, essv5643536, essv5979554, essv5863244, essv6200142, essv6505993, essv6260016, essv6355509, essv6333322, essv5508374, essv6066365, essv5498782, essv6244163, essv6442387, essv5876455, essv6344052, essv6282266, essv6224371, essv5469833, essv5575295, essv5991461, essv5964020, essv6404526, essv6125048, essv6035556, essv5660286, essv6461820, essv5842460, essv6404424, essv6383614, essv5978284, essv5414397, essv6540435, essv6325094, essv6534360, essv5419426, essv5905377, essv5468630, essv6375567, essv6258014, essv5477514, essv6468432, essv5866290, essv5639631, essv6513009, essv6168778, essv6229076, essv6009631, essv6146794, essv6495935, essv5427840, essv6006445, essv5741197, essv5868275, essv6377167, essv6333709, essv5454759, essv5710559, essv6544266, essv6595877, essv6276132, essv5606952, essv5497253, essv5783229, essv5842746, essv6365253, essv5973012, essv5471201, essv6197987, essv6296350, essv6025412, essv5688943, essv6452689, essv5404586, essv5761391, essv5420220, essv5426724, essv6230011, essv5847721, essv5948099, essv6001947, essv6313565, essv5666153, essv6526054, essv6508357, essv5600683, essv5931317, essv5700861, essv6543734, essv5512609, essv5921182, essv5977619, essv5670176, essv6401931, essv5948723, essv5787435, essv6182744, essv6346619, essv6338330, essv5861668, essv6118867, essv6137963, essv5672747, essv6219416, essv5990768, essv6579890, essv5773707, essv5580846, essv6302475, essv6224666, essv5506515, essv6394821, essv6284408, essv5902669, essv5788348, essv5577969, essv5631157, essv6520605, essv5931530, essv5719076, essv6522814, essv6556278, essv6238937, essv5766099, essv6322300, essv6445874, essv5985877, essv6487046, essv6291598, essv5776862, essv6188175, essv5733252, essv6164025, essv6382336, essv5804825, essv5509515, essv5888631, essv5835201, essv6499992, essv5675567, essv5484408, essv5849802, essv5675447, essv5605489, essv6411578, essv5519898, essv5996424, essv6087755, essv5785313, essv5627654, essv6432132, essv6475168, essv6500462, essv6335940, essv6124789, essv5954970, essv6264113, essv6242813, essv6159546, essv5687973, essv6114797, essv5954165, essv5504844, essv6100500, essv6561714, essv6106013, essv6192899, essv5961710, essv5776958, essv6573653, essv6110712, essv5730662, essv5533623, essv5451002, essv6361516, essv6273944, essv5480555, essv5858923, essv5854631, essv5737032, essv6566000, essv6312144, essv6233222, essv6089152, essv6087296, essv5540550, essv5576690, essv5965987, essv5518599, essv5516767, essv6263737, essv6477300, essv6296966, essv6486871, essv6237299, essv5773387, essv6042502, essv6462536, essv6069538, essv5982240, essv5928921, essv5759444, essv5883599, essv5761101, essv5500247, essv6117952, essv6219880, essv5631119, essv6597476, essv6346402, essv5802974, essv6238563, essv5506318, essv6589247, essv6514725, essv6034682, essv5768649, essv5686562, essv6308198, essv5820620, essv5490965, essv6190861, essv5919201, essv5472430, essv6012296, essv6325127, essv5794396, essv5407223, essv5593556, essv5537538, essv5750177, essv5471064, essv5424034, essv6516509, essv5917433, essv5694057, essv5898900, essv6481916, essv5993633, essv5886076, essv6347534, essv6322604, essv6550002, essv6161697, essv5672159, essv5714166, essv6444988, essv5766876, essv6072154, essv5626592, essv6230930, essv6227448, essv6361665, essv6114864, essv5778953, essv6583103, essv5737439, essv5588829, essv5587256, essv6542701, essv6192275, essv6058212, essv6370289, essv6498866, essv5789980, essv5661940, essv6280892, essv5569564, essv5443609, essv6503535, essv6256372, essv5847988, essv5802034, essv6455181, essv5980421, essv6552653, essv5613012, essv5445259, essv5924786, essv5691406, essv6079876, essv6069293, essv5943421, essv6359344, essv5587177, essv6140786, essv6552145, essv5467554, essv5579894, essv6409211, essv6275256, essv5572686, essv6402377, essv6133579, essv6296544, essv5511294, essv6379054, essv5754818, essv6278516, essv6466604, essv6215504, essv5712755, essv6078279, essv6051115, essv5869280, essv5541860, essv5984897, essv6236658, essv6163340, essv6255446, essv6341420, essv6083762, essv6171218, essv5849866, essv5410031, essv5407663, essv6534886, essv5458794, essv6476128, essv5985502, essv6125286, essv5757414, essv6345390, essv6354305, essv6363540, essv6209552, essv5828250, essv5612489, essv5691050, essv5600886, essv5693604, essv6030780, essv5860610, essv6121719, essv5766883, essv5603091, essv5623093, essv5569596, essv6052218, essv5399310, essv6496828, essv6340658, essv6025997, essv6274095, essv6132945, essv5870964, essv6461664, essv6213721, essv5701720, essv5989968, essv5928306, essv5906903, essv6182049, essv5602706, essv6424975, essv5400112, essv6137305, essv5950379, essv5440169, essv6052609, essv5434977, essv6169824, essv5987007, essv5786774, essv5807123, essv6319704, essv5534058, essv6549783, essv5898787, essv6316348, essv6408039, essv6082565, essv5431826, essv6134569, essv5429547, essv6132840, essv5403001, essv6279571, essv6384842, essv6541631, essv5758350, essv6225811, essv5819042, essv6516146, essv5709012, essv5713988, essv6518539, essv5436398, essv6118935
SamplesNA18502, HG00650, NA19058, HG00142, NA19664, NA19399, NA12414, NA11920, NA11931, HG00151, NA20512, NA12751, NA18504, NA19684, HG01461, NA12750, NA19067, NA19446, HG00138, HG01350, NA19379, HG00589, NA19315, NA20798, HG01177, NA19678, NA20756, NA18558, NA18547, HG01492, NA18618, NA18916, NA18582, HG01083, HG01365, NA19384, HG00537, HG00243, NA20291, NA18949, HG00158, HG00512, HG00281, HG00139, NA19720, NA18868, NA19172, NA19239, NA18985, NA20757, HG00323, NA20515, NA19921, HG00137, NA18605, NA12489, HG00731, NA18538, HG00266, NA19056, HG00657, NA20810, NA19717, NA19663, HG00344, NA20519, NA18948, NA19064, NA18548, NA18907, NA18537, HG01047, HG00690, HG00404, NA12829, HG00331, NA19750, NA19453, NA18532, NA06989, NA19059, HG01334, NA19009, NA19452, NA19682, NA18523, NA19395, NA19625, NA18593, HG01107, NA20799, NA19729, HG00611, NA19440, NA18517, NA19712, NA19434, NA19444, NA19331, NA20520, NA19470, NA19428, HG00116, NA19083, NA18943, NA19360, NA12763, HG00662, HG00614, HG00513, NA19223, NA19779, NA18609, NA19102, HG00274, NA20503, HG00595, NA19129, HG00628, NA18624, NA19065, NA18612, NA19074, NA19431, NA18577, HG00593, HG00626, HG01060, HG00114, HG01441, NA19648, HG00592, NA19397, NA19466, NA11995, HG01359, HG01052, HG01079, HG00100, NA18561, NA19704, NA18507, HG01188, NA11933, NA18599, HG01389, HG01374, NA18603, NA19819, NA12004, NA12058, NA20346, NA20507, NA18526, NA12413, NA12341, NA20537, NA19068, NA19746, NA18550, NA18489, NA18595, HG00702, HG00689, NA19723, NA18635, NA19916, HG00634, HG00736, NA19197, HG01354, NA19313, HG00247, NA18498, NA19681, HG00590, NA20541, NA12761, NA12282, HG00277, NA19651, HG00120, HG00106, HG01170, HG00236, HG00262, NA19719, NA19371, NA18560, NA19471, HG01176, NA19087, NA12889, NA19725, NA18520, HG00637, HG00338, NA19209, NA12828, NA18973, HG00530, HG00419, NA19451, NA18638, HG00108, NA20818, NA19007, HG01136, HG00560, NA19247, NA18613, HG00629, NA19657, HG01360, NA19082, NA19707, HG00428, NA19462, NA19347, NA20536, NA19391, HG00475, NA19982, HG00500, NA19788, NA18910, NA18976, NA19776, NA19000, HG01197, NA18853, NA19225, NA19756, HG00141, NA19160, NA18576, NA19401, NA20801, NA18535, NA11881, NA19834, NA19108, NA18952, NA18543, NA18559, NA12775, NA19749, HG00565, NA18950, NA19732, HG00136, NA07051, HG00607, NA19786, HG00319, HG01108, NA19818, NA19759, NA19376, HG00672, HG00578, NA19248, HG00312, NA19438, NA20582, NA19472, HG00329, NA19713, HG00174, NA19726, NA18972, NA18552, HG01377, HG00472, NA18505, NA19004, HG01191, NA19153, NA20509, NA12383, NA19701, HG00542, NA12717, HG01173, NA12842, HG00143, NA19703, HG01462, NA19909, NA19066, NA19204, NA18861, NA10851, HG00559, NA18565, HG01066, HG00315, NA20752, NA20802, NA19350, NA19359, NA19355, NA18959, NA18616, HG00449, HG00654, NA19443, HG01051, NA20356, HG00097, NA20771, NA18602, HG00693, NA18988, NA18627, HG00271, HG00663, NA07346, NA18563, NA19373, NA18940, NA19319, HG01351, NA18567, NA19457, NA20287, HG00185, NA19904, NA19130, NA11930, NA12275, HG01069, HG01080, NA20518, NA20278, HG00148, NA12156, HG00156, HG00325, NA11932, HG00232, NA19372, NA11994, HG00534, NA19207, HG00705, NA19722, HG00118, NA18990, NA18557, HG01048, HG01133, NA20753, HG01124, HG00154, HG00443, HG00268, HG01171, HG00282, NA19670, HG00557, HG00245, HG00732, NA19455, HG00556, HG00583, HG00263, NA18579, NA18871, NA18534, HG00239, HG00740, NA19654, HG00284, NA18573, NA19461, HG00651, NA18626, HG00531, NA20581, HG00684, HG00140, NA19099, NA19761, NA18555, HG00146, NA12144, HG00246, NA18570, HG01075, NA19012, NA18974, NA12043, NA18953, HG01148, NA19003, NA18632, HG00254, NA19390, NA19147, HG00625, NA19747, HG00353, NA12272, HG00734, HG01375, NA19835, HG00237, NA19679, NA19324, NA19311, HG01113, NA20544, HG01137, NA18610, HG01489, HG00339, NA06994, HG00259, HG00342, NA19716, NA19468, NA19474, NA20510, HG00310, NA20786, NA11843, NA19080, NA19780, NA18983, NA20502, NA19430, NA11892, NA19316, NA19312, HG01125, NA18968, NA12890, NA19463, NA18623, NA20585, NA12154, NA20754, NA19346, NA19676, NA18620, HG00403, NA11830, HG01356, HG00536, HG00249, NA11829, HG00524, NA19332, NA20531, HG00640, HG00367, NA18486, NA18545, NA19393, NA18596, HG00177, NA18870, NA12155, NA07357, HG00327, NA18967, NA19374, NA19396, NA19381, NA20796, NA19005, NA18944, HG01366, NA19201, HG00501, NA19382, NA19762, NA19448, HG01488, HG00448, NA20586, NA18982, HG00346, NA19771, NA19088, NA19138, NA19782, NA18964, NA18611, HG01067, NA19383, NA06984, NA18977, HG01072, NA19385, HG00422, NA19317, HG01440, HG00427, NA20811, NA19901, HG00159, NA19456, NA19445, NA18975, NA20533, NA11993, HG00260, NA18614, NA11831, NA10847, HG01353, HG00133, HG01183, NA19437, HG01187, HG00596, HG00328, NA20505, NA12003, HG00653, NA18956, HG00701, NA19236, HG00436, HG00320, HG00533, NA20506, HG00619, HG00708, HG01390, NA18566, HG01073, NA19114, NA19449, NA11894, NA18856, HG00613, HG00525, NA19338, NA19257, NA18634, NA20534, NA19675, NA18945, HG01204, NA20765, NA18546, NA18608, HG00124, NA20522, NA18542, NA18909, HG01190, HG00285, NA18961, HG00366, NA19473, NA19435, NA18941, NA20804, NA19240, HG00278, NA19380, NA19144, NA12046, NA19334, NA19439, NA19467, NA20516, NA07037, NA06986, NA19398, HG00111, NA18971, NA19060, HG00421, HG00656, HG01254, HG01055, HG00123, HG00698, HG00131, NA19213, HG01251, HG01378, NA19755, NA18488, HG01082, NA19758, NA07000, NA18522, HG00554, HG00180, NA18622, HG01061, NA18562
Known GenesDLGAP1, DLGAP1-AS4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658035
Frequency
Sample Size1151
Observed Gain0
Observed Loss598
Observed Complex0
Frequencyn/a


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