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 Variantsessv5772206, essv5787435, essv5832590, essv6224371, essv6516509, essv5612489, essv5917433, essv6013141, essv6219880, essv6234511, essv6542701, essv5410031, essv6518539, essv5985502, essv6132225, essv6244163, essv5670176, essv6137305, essv6239396, essv6573653, essv6550002, essv5431826, essv5841192, essv6468432, essv5675567, essv6229076, essv6032847, essv6177225, essv5802761, essv6125286, essv6010442, essv5861668, essv6568702, essv5819042, essv5484191, essv5788348, essv6579890, essv6461664, essv5965987, essv5877117, essv5712755, essv6188175, essv6462536, essv6379054, essv6561714, essv6312144, essv6292944, essv6118935, essv5773946, essv5404586, essv6499992, essv5509515, essv5686562, essv5864159, essv5846871, essv6087755, essv6372761, essv5424034, essv6260016, essv5577969, essv5588829, essv6402377, essv6423282, essv6515665, essv5451002, essv5868275, essv6305960, essv5573602, essv5599781, essv5791241, essv5447469, essv5728300, essv5562554, essv6197987, essv6379151, essv6042502, essv5572686, essv5741197, essv6548408, essv6359344, essv6377696, essv5631119, essv6166210, essv6302475, essv6237299, essv6264113, essv6325094, essv6361665, essv6425236, essv6498866, essv6543734, essv5559604, essv5812007, essv5931011, essv6477300, essv6192899, essv6375567, essv5471201, essv5759444, essv5691050, essv5702046, essv6383614, essv6200142, essv5395753, essv6106912, essv5886076, essv6286010, essv5842460, essv6072154, essv6025412, essv6236658, essv6513009, essv5606318, essv5718097, essv5870964, essv6132840, essv6494337, essv5684979, essv6394821, essv5757414, essv5405034, essv5919201, essv5883599, essv5467554, essv6146794, essv6363540, essv5484408, essv6432132, essv6346619, essv6202863, essv6357048, essv5628515, essv6065218, essv6137548, essv6182049, essv5943421, essv5973012, essv6550727, essv5495595, essv5866290, essv5931317, essv6354305, essv5989968, essv6040274, essv6481916, essv5581232, essv5725489, essv6322604, essv6377167, essv6461820, essv6411578, essv5849802, essv5406642, essv5811386, essv5907888, essv6500743, essv6595877, essv5691437, essv5766099, essv5643536, essv6258014, essv5854192, essv5961710, essv6066365, essv6355509, essv6121719, essv6147884, essv5750177, essv6487046, essv5996349, essv6052218, essv6296544, essv5593556, essv6279571, essv6371823, essv6445874, essv5512609, essv5713988, essv5794782, essv6449728, essv6521248, essv5504844, essv5627753, essv6263737, essv6340658, essv6168778, essv6512275, essv6230930, essv5744683, essv5921182, essv6531022, essv5905377, essv6525984, essv5991461, essv5842746, essv6310601, essv6319704, essv5600886, essv6125048, essv6086214, essv6144384, essv6540435, essv5668374, essv6325127, essv5472430, essv6589247, essv5506515, essv6058212, essv5471982, essv6583103, essv6474735, essv5468630, essv6182744, essv6025997, essv5622912, essv6132945, essv6278516, essv6508357, essv5510759, essv6369396, essv5789980, essv6082565, essv6466604, essv6273944, essv5700861, essv5465886, essv5661940, essv5911933, essv5945113, essv5985877, essv6001947, essv6180789, essv6291598, essv6514725, essv6004913, essv5540550, essv6133579, essv6213721, essv5508374, essv5948099, essv6512561, essv6277218, essv6069293, essv5527300, essv6028478, essv6227448, essv5506318, essv5835201, essv5440169, essv6248214, essv5497253, essv5672747, essv6280892, essv6544266, essv5420220, essv5776958, essv6052609, essv5735497, essv6322300, essv6275256, essv6335940, essv5687973, essv5954970, essv5675447, essv5984897, essv6359722, essv6225811, essv6580813, essv5928306, essv6552653, essv5461124, essv5580846, essv5778953, essv6336046, essv6347534, essv5600683, essv6151824, essv5445259, essv5587177, essv5498782, essv5693604, essv5847988, essv6495935, essv5613012, essv6442387, essv6295796, essv5537538, essv6417937, essv5864662, essv5931530, essv6492233, essv5407223, essv5534079, essv5860610, essv6012296, essv5436398, essv6384842, essv6330094, essv6134569, essv5982240, essv6537585, essv5606952, essv6566000, essv5557462, essv5587256, essv5423741, essv5924786, essv5882697, essv6526054, essv6219416, essv5426724, essv5469833, essv5660286, essv5626592, essv6215504, essv6516146, essv6224774, essv5438797, essv5504083, essv6030780, essv5533623, essv5768649, essv5954165, essv6256372, essv5993633, essv5543055, essv5980179, essv5800226, essv6140786, essv5577399, essv6116456, essv5902669, essv5676284, essv6009631, essv5807123, essv5854631, essv6274095, essv5542234, essv6150050, essv5511294, essv5990768, essv5928921, essv5869280, essv6122169, essv5429547, essv6114797, essv5758350, essv5458794, essv6553196, essv6161261, essv6051115, essv6154913, essv6296350, essv5688943, essv5773387, essv5804825, essv5978284, essv5802034, essv5786774, essv6455181, essv5674362, essv6588742, essv5594229, essv5623093, essv6117560, essv5579894, essv5773707, essv5839134, essv6452305, essv5516767, essv5766876, essv5981915, essv6078279, essv6034804, essv6290789, essv6308198, essv6404526, essv5500247, essv5849866, essv6308010, essv6361516, essv5847721, essv5840458, essv5776862, essv6365253, essv6443367, essv6169824, essv6316348, essv6597476, essv5714166, essv6284408, essv5400112, essv5754818, essv6549783, essv5694057, essv5701720, essv5742754, essv5657921, essv6495047, essv5409709, essv6034682, essv6192275, essv6508956, essv5569596, essv5888631, essv5802974, essv5576690, essv5632010, essv5723667, essv5407663, essv5553836, essv5820620, essv6294546, essv5810090, essv6556278, essv5784740, essv5443609, essv5575295, essv5980421, essv5631029, essv6409211, essv5559705, essv5595080, essv6224666, essv6035556, essv5399310, essv6013226, essv5898787, essv6233222, essv6238937, essv6338330, essv5480555, essv6159546, essv6382336, essv6408039, essv6552145, essv6333322, essv5948723, essv5618305, essv5987007, essv5471064, essv6373849, essv5680970, essv5876455, essv6163340, essv6389934, essv6587188, essv5684425, essv5761391, essv5906903, essv6164025, essv6357495, essv6534360, essv5828250, essv6209552, essv6345390, essv5711322, essv5670434, essv6444988, essv5414397, essv6475168, essv5440039, essv6083762, essv6296966, essv5410203, essv5427840, essv5737439, essv6303897, essv6594588, essv5785313, essv5625121, essv5761101, essv6106013, essv5666153, essv5541860, essv6520605, essv5614065, essv6370289, essv6333709, essv5730662, essv6344052, essv5794814, essv6393923, essv6541631, essv5477514, essv6069538, essv6282266, essv6346402, essv6110712, essv5569564, essv6055511, essv5719076, essv5823843, essv6117952, essv6503535, essv6137963, essv5748894, essv5996424, essv6424975, essv5611328, essv5672159, essv6238563, essv5454759, essv6118867, essv5605489, essv5731493, essv5518599, essv6006059, essv5885210, essv6114864, essv6433910, essv6147490, essv6242813, essv6305821, essv5564620, essv6491934, essv5755115, essv5681783, essv6121537, essv6401931, essv6522814, essv6534886, essv5685560, essv5631157, essv5864928, essv6205194, essv5858923, essv6087296, essv6230348, essv6590765, essv5419426, essv5733252, essv5759330, essv6230011, essv6155634, essv5644285, essv5977619, essv6255446, essv6404424, essv6341420, essv5534058, essv5709012, essv5932297, essv5403001, essv6496828, essv6190861, essv5639631, essv6006445, essv6052335, essv6068235, essv5865566, essv6452689, essv6480480, essv5434977, essv6067375, essv6486871, essv6507246, essv5863244, essv5914158, essv5955841, essv5603091, essv6089152, essv6344494, essv5794396, essv6486162, essv6500462, essv6276132, essv5850199, essv6272181, essv6124789, essv6079876, essv5737032, essv5950379, essv5979554, essv5627654, essv5995107, essv6341829, essv5691406, essv5628275, essv5766883, essv5964020, essv5419442, essv6033911, essv6462967, essv6171218, essv5410696, essv5519898, essv5490965, essv6161697, essv6476128, essv6102171, essv6100500, essv5602706, essv5710559, essv6505993, essv5783229, essv5898900, essv6313565
SamplesHG00613, HG01441, NA19207, NA18870, NA19248, NA19312, NA12154, HG01440, NA18535, NA18871, HG00328, NA18523, NA20752, HG00705, HG00500, HG00274, HG00131, NA20544, NA20796, HG00565, NA19311, NA20346, NA19223, NA19435, HG01079, HG01389, HG01365, NA19334, NA19788, NA19331, NA19453, HG01082, NA18953, HG01488, NA18517, HG00428, HG00542, HG00139, NA19144, NA18546, NA12058, NA18507, HG00111, HG00404, NA19257, NA19701, NA19236, NA18505, NA19472, HG00156, NA18950, HG00353, NA18596, NA18949, NA18868, HG00554, HG00592, NA12414, HG01107, NA19463, HG00158, HG00556, HG01148, NA20505, NA12763, HG00346, NA18967, NA19239, NA18627, HG00593, HG01375, NA19390, HG00421, NA12004, HG01378, NA18635, NA20811, NA19675, NA18622, HG00259, NA19197, NA19443, NA18623, NA19471, HG01048, NA19444, HG01061, NA18990, HG01183, HG01124, NA19083, NA19088, HG00315, NA12761, NA18956, HG00338, NA18959, HG00533, NA18609, HG01360, NA11843, NA11831, NA11894, NA20520, NA11995, NA18916, HG00174, HG00634, NA18593, HG00243, HG00284, HG01187, NA19457, NA12144, NA19082, HG00662, NA19324, NA12751, NA19000, HG00097, NA19247, NA19360, NA19725, NA19313, NA19380, NA19395, NA19786, NA19080, NA07346, NA19129, NA19771, NA19372, NA20291, HG00653, HG01191, NA19374, HG00640, HG00732, NA19384, HG00325, NA19716, HG00185, NA18968, NA19102, HG00263, NA20753, NA12275, NA19005, NA19664, HG00501, HG00672, HG01170, HG01069, HG00249, NA11892, NA18961, HG00277, HG01080, HG01351, HG00740, HG00524, NA19720, HG00534, HG00525, NA18910, HG00236, HG00120, NA18940, NA12890, HG00427, HG01137, NA19921, HG01190, NA19138, NA19376, NA19729, NA12272, NA20756, NA18909, NA19391, NA19723, NA19201, NA18538, NA12413, NA19009, NA20518, NA12889, NA19431, NA19747, NA20287, HG00118, NA19755, NA19818, HG00654, HG01390, NA18614, HG00530, NA18548, NA11830, NA20810, HG00123, HG00285, NA18944, NA19225, HG00142, HG01366, NA19732, NA19371, HG00708, HG01108, NA18610, NA19315, NA11932, NA11829, NA19130, NA19756, HG01177, NA19240, NA19346, HG00320, HG00625, HG00690, NA12717, NA19204, NA19350, NA20804, HG00626, HG01377, NA19087, HG00702, NA18555, NA19385, HG00271, NA19779, NA19466, NA19746, HG00531, HG01354, HG00312, HG00327, HG00323, NA18964, NA12043, NA19445, NA19625, HG00734, HG01359, NA18861, HG00536, HG00607, NA12750, NA11930, NA07037, NA20522, NA20278, NA20503, HG00344, HG01072, HG01052, HG00100, HG01075, NA18561, NA20506, HG01055, NA18952, NA18975, NA20516, NA18612, HG00731, HG00245, HG00596, NA19401, HG00736, HG00449, NA19060, HG00310, NA18550, NA18570, NA19003, NA19455, NA06989, NA20802, NA18948, NA19430, NA19670, NA11931, NA19317, HG01492, NA19451, NA18972, NA19338, NA18573, NA18608, NA20786, NA18542, NA19782, NA19461, HG00106, HG00701, NA19834, HG01188, HG01204, HG01461, NA19648, HG00651, NA19004, NA19678, HG00557, HG00366, HG00578, NA19108, HG00331, HG00146, NA18488, NA19355, NA19474, NA19780, NA12341, NA19467, NA19147, NA18626, NA19776, NA19438, NA19654, NA20586, HG00247, HG01133, NA18632, HG00342, HG00266, NA19762, HG00154, HG01254, NA18559, HG00339, NA19726, NA19067, NA19428, NA20585, NA19383, NA19982, NA20533, NA18624, NA19059, NA12282, NA20356, NA20515, HG00472, HG00583, NA12383, NA18566, NA11994, NA19068, HG00140, NA12155, NA18576, HG00180, NA18563, NA18618, NA07357, NA20757, NA19722, NA20801, HG01047, HG00689, NA19396, NA20754, NA18856, HG00141, HG00628, NA19397, NA18638, NA19398, NA19440, NA19066, NA11933, NA20541, NA20765, HG00419, NA18547, NA12829, NA18976, HG01113, HG01136, NA18973, NA19835, HG00637, NA18982, NA19681, HG00254, NA19056, NA19663, NA19679, HG00403, NA18634, HG00237, NA19316, NA19684, HG00133, HG00114, NA19213, NA19676, HG00436, HG00159, NA19153, HG00124, NA12046, HG00108, NA18537, NA18620, NA19172, NA19759, NA19703, NA20536, HG00268, HG01066, NA19393, NA20512, NA19373, HG00629, NA18498, NA18486, HG00559, NA06986, NA18522, HG00260, NA18502, NA19657, HG00560, NA19713, HG01073, NA18558, NA18977, HG00239, NA18941, NA19901, HG00282, HG00232, HG01176, HG01356, NA18504, NA19704, NA20818, HG00116, NA19347, NA19332, NA19909, NA18613, HG00513, NA20582, NA18988, HG00329, HG00512, NA19707, HG00246, NA18562, NA19074, HG01060, NA19382, NA18579, NA18974, NA18985, NA19462, HG00589, NA18945, NA18543, HG00151, NA10851, NA18582, NA20581, NA20537, HG00590, HG00595, NA18552, NA20534, NA18983, HG00443, NA18599, NA18907, NA18567, HG00611, HG01334, NA20799, HG00650, NA06984, NA18565, HG00138, HG00663, NA12156, HG00262, NA18560, NA19719, NA18971, NA19434, HG00448, NA18602, NA18577, NA19099, NA19446, NA20509, NA19452, NA20507, NA12003, NA19064, NA19749, HG00281, NA11993, NA19399, NA19717, HG00656, NA12842, NA19160, HG00422, NA19916, HG01251, NA19470, HG00367, HG00693, NA18611, HG01125, NA18532, NA18853, HG01374, HG00137, HG01462, HG01489, NA19381, NA19473, HG00684, NA06994, HG00143, NA19758, NA19448, NA20502, NA19468, NA19750, HG00278, NA19007, NA20519, NA19456, HG00136, NA19065, NA07000, NA12775, NA19058, HG01067, NA19439, NA19012, NA11881, NA12489, HG00537, NA18605, NA19712, NA18520, NA18595, NA18616, NA20771, NA19904, HG00619, NA18534, HG01353, NA19819, NA19437, NA19114, HG01173, NA11920, HG01083, NA20510, NA19209, NA18526, NA20531, NA10847, NA18545, NA18603, NA19319, HG01197, HG00657, NA19359, HG00614, HG01051, NA12828, HG00475, NA19449, HG00148, HG01350, NA18489, NA19379, HG00698, NA07051, NA19651, NA19682, HG00177, NA20798, HG00319, NA18557, NA18943, NA19761, HG01171
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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