A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667959



Internal ID9934064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:83300555..83300840hg38UCSC Ensembl
chr4:84221708..84221993hg19UCSC Ensembl
Cytoband4q21.23
Allele length
AssemblyAllele length
hg38286
hg19286
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6186134, essv5569849, essv5502838, essv5578443, essv6207503, essv5979439, essv6552162, essv5739534, essv6267939, essv6211489, essv6166815, essv6057413, essv6421073, essv6370014, essv5687482, essv6176130, essv6576306, essv6335193, essv6182487, essv5866268, essv6340093, essv5847538, essv6420849, essv5796752, essv6287692, essv5793563, essv6583159, essv6465230, essv6073672, essv6341155, essv6491501, essv5930403, essv6154760, essv6345467, essv6469782, essv5726162, essv6459086, essv5998242, essv5610503, essv6480748, essv6539296, essv5419555, essv6326653, essv5756212, essv6432496, essv6126643, essv5489840, essv5444623, essv6489614, essv6016779, essv6419913, essv6290864, essv5839277, essv6431916, essv5753960, essv6131539, essv6067842, essv5767449, essv6364515, essv5948925, essv6051339, essv5926564, essv5953095, essv5690611, essv6470092, essv5551656, essv6591528, essv5963663, essv6334360, essv6215537, essv6216441, essv6111210, essv5580826, essv6291943, essv5880565, essv6369565, essv5617653, essv6495943, essv6014267, essv5415840, essv6466273, essv5667778, essv5510822, essv5904828, essv5685748, essv6130510, essv6079691, essv6056348, essv5568211, essv5705210, essv6344151, essv5649561, essv5633887, essv6195809, essv5735303, essv6525499, essv5920757, essv6463126, essv6134349, essv5796204, essv6370227, essv6056695, essv6574483, essv5428881, essv5720034, essv5903484, essv5774990, essv6182121, essv5791147, essv5896619, essv6150044, essv5784130, essv6574864, essv6033234, essv6262434, essv6137841, essv6276557, essv6074718, essv6569657, essv6029976, essv5483080, essv5418502, essv5899566, essv6238894, essv5487446, essv6065945, essv6285679, essv5626822, essv6211652, essv6458801, essv6510514, essv6272037, essv5494718, essv5947572, essv6090944, essv5793065, essv5866599, essv5419448, essv6182350, essv5874627, essv5612778, essv5544964, essv6444071, essv6339817, essv5754773, essv5686900, essv5494298, essv5527941, essv5892468, essv5980669, essv6090791, essv6448505, essv5779839, essv5966446, essv5979815, essv5658789, essv6294021, essv5731848, essv5515016, essv6203045, essv5601153, essv5745280, essv6036523, essv5681794, essv5449631, essv5800686, essv5575973, essv5477016, essv6149840, essv6510174, essv6469594, essv5416032, essv6431779, essv6233876, essv5759963, essv6388193, essv5526909, essv5465827, essv5647093, essv5650048, essv5714511, essv5641601, essv6548923, essv5695470, essv6304441, essv6146366, essv6228602, essv5832082, essv5456625, essv6009463, essv5963370, essv5476334, essv6237595, essv5706901, essv5603188, essv5576352, essv6138729, essv6410733, essv6432869, essv5529426, essv5720259, essv6287424, essv5767463, essv6059366, essv6422232, essv5750376, essv6055890, essv5842349, essv6561610, essv6430182, essv6053758, essv6380019, essv6571225, essv6354051, essv5641213, essv6420145, essv6588630, essv5956974, essv5506263, essv5406077, essv6422760, essv6464368, essv5618162, essv5643227, essv5769354, essv6254728, essv6001834, essv6498701, essv6285311, essv6277150, essv6190321, essv6464906, essv5811896, essv5859005, essv6239276, essv5435817, essv5541308, essv5477147, essv6305352, essv6097421, essv5918917, essv5427408, essv5852261, essv5459682, essv5989912, essv5977895, essv6294366, essv5542383, essv6096140, essv6445236, essv6082491, essv6589483, essv6536566, essv6418701, essv6214049, essv5493034, essv5926445, essv6259985, essv5883027, essv5475376, essv5694831, essv6397285, essv6519933, essv5521318, essv5852927, essv5561846, essv6294324, essv6521441, essv5666362, essv5396955, essv5698814, essv6109718, essv6333958, essv6468419, essv6478585, essv6341137, essv5528480, essv5977742, essv6220617, essv6562261, essv5747406, essv6119087, essv6592848, essv6154918, essv6058831, essv5759644, essv5660565, essv6519931, essv6068179, essv6398169, essv5517974, essv5617682, essv5518762, essv6538078, essv6432127, essv5946867, essv5541077, essv6379605, essv6057248, essv6592329, essv6302192, essv6089300, essv6072431, essv6022473, essv6028169, essv5687768, essv6350451, essv6267969, essv6511202, essv5601607, essv6296515, essv5987463, essv5898270, essv5982122, essv5642134, essv5704638, essv6383221, essv6108196, essv6391980, essv5985439, essv5641397, essv6300154, essv5676160, essv5569229, essv5488717, essv5679292, essv5935628, essv5713567, essv6367125, essv6167590, essv5465538, essv6002860, essv5462514, essv5815403, essv5423259, essv6349913, essv6093261, essv5584615, essv5743686, essv5760120, essv5561890, essv6530801, essv5696882, essv5777752, essv6226369, essv5401730, essv5728723, essv5979135, essv6145101, essv6455010, essv6448312, essv6252971, essv5417281, essv5825903, essv5852954, essv5791323, essv5618567, essv6354303, essv5502414, essv6559125, essv5751567, essv5437226, essv6010801, essv5704493, essv6570049, essv6290519, essv5904497, essv6232093, essv5886493, essv6248849, essv6281132, essv6068614, essv5598922, essv6538740, essv6104707, essv5855289, essv6493092, essv5929541, essv5647259, essv5868420, essv5694531, essv6289439, essv5569803, essv6485438, essv6306499, essv6271963, essv5991460, essv6129150, essv5589520, essv6434572, essv5941222, essv6472260, essv5573744, essv5678346, essv6427523, essv6587460, essv6024180, essv5616837, essv5407499, essv5710683, essv6533941, essv6132069, essv5626126, essv5908172, essv5782354, essv6231019, essv5494836, essv6587922, essv6423806, essv6400713, essv6583712, essv5590015, essv6481498, essv5517805, essv6143320, essv6285585, essv6261468, essv5613633, essv6358976, essv6137044, essv6470653, essv5942478, essv6491411, essv6278771, essv6026708, essv5907743, essv5486468, essv6263938, essv5680010, essv5842788, essv5658723, essv6463722, essv5493864, essv6416744, essv5744917, essv5467317, essv5434049, essv6567887, essv5530242, essv5836993, essv6246527, essv6054379, essv6200917, essv6036208, essv6074798, essv5566796, essv5911506, essv5432037, essv5508460, essv6255699, essv5788990, essv5859355, essv5613960, essv5718213, essv5908444, essv5706485, essv6592286, essv6267376, essv6220551, essv5969830, essv5474563, essv5764235, essv5852496, essv5654802, essv6387063, essv6023857, essv5443010, essv5436129, essv6173672, essv5936690, essv5903704, essv6192843, essv6063123, essv5488950, essv5742839, essv6493308, essv5484060, essv5501653, essv6200523, essv5435114, essv6533641, essv5528107, essv5846958, essv5999021, essv6393330, essv6207604, essv6204390, essv6418734, essv6175761, essv6540794, essv6277338, essv6563652, essv6487834, essv6407065, essv5738089, essv5453125, essv5834866, essv6426960, essv5647318, essv5748318, essv6233005, essv5856721, essv6001099, essv6424336, essv5711847, essv6188795, essv6185787, essv5773098, essv5547576, essv5985416, essv6402504, essv6154104, essv6162254, essv6070123, essv5605139, essv6504191, essv6022193, essv6092245, essv6433748, essv5704021, essv6591606, essv6257249, essv6032709, essv5811852, essv5768416, essv6104954, essv6222354, essv5718049, essv6325907, essv6532217, essv6500193, essv6588433, essv6077180, essv5648585, essv5758919, essv6467703, essv5952470, essv6286270, essv5900686, essv6497287, essv6205029, essv5867591, essv5484449, essv5562878, essv5884423, essv6200694, essv6393016, essv6408313, essv6406052, essv6507933, essv5707619, essv6229281, essv5838788, essv5810222, essv6292088, essv6440720, essv6298822, essv6444209, essv5899076, essv5986050, essv5782724, essv6057487, essv5549239, essv6022834, essv5971901, essv5890535, essv6161199, essv6134114, essv5925714, essv6221505, essv6586636, essv6507298, essv5550347, essv5574505, essv6088641, essv5434365, essv6216802, essv5926919, essv6134538, essv6585083, essv6495350, essv6421080, essv5865335, essv6511003, essv6198383, essv5710807, essv5483961, essv6151752, essv5908511, essv5397589, essv5845110, essv6564786, essv6241262, essv5860589, essv6594626, essv5735780, essv5649735, essv6531169, essv6224069, essv5711580, essv5704510, essv5590214, essv6303844, essv5991347, essv6589431, essv5860592, essv5402676, essv6109006, essv6467343, essv6084789, essv6340002, essv5828320, essv5456412, essv5753829, essv5508144, essv5460505, essv6561066, essv6120019, essv6055350, essv5468078, essv6540325, essv6589591, essv5749613, essv6495070, essv6104786, essv6008861, essv6417247, essv5689176, essv6567230, essv6119662, essv5869336, essv5450030, essv5958838, essv5890194, essv5634231, essv6256775, essv5677351, essv6474405, essv5885518, essv6174897, essv6016510, essv5449608, essv5523304, essv5427777, essv6017469, essv5592021, essv6012658, essv6152694, essv6191369, essv6113991, essv5790868, essv5533357, essv6179637, essv5789791, essv5410295, essv5932600, essv5556178, essv5917291, essv6283557, essv6203158, essv5497503, essv6298567, essv5648401, essv5566037, essv6138948, essv5521098, essv6386839, essv6120580, essv5842081, essv5713371, essv5865245, essv6232446, essv6018621, essv6125429, essv6440260, essv6153221, essv5602595, essv6435637, essv6010782, essv6301215, essv5685355, essv5655929, essv5795013, essv5648011, essv5881660, essv5947338, essv6176377, essv6027563, essv6498498, essv5970699, essv6445519, essv5450146, essv5882104, essv5798282, essv5752135, essv6415363, essv6033287, essv6007265, essv6076373, essv6182362, essv6255634, essv6211963, essv5580263, essv5558225, essv6485864, essv6435511, essv5666462, essv5834160, essv6412230, essv6082673, essv5770961, essv5677109, essv5872725, essv6472514, essv5934354, essv6542666, essv6338409, essv6472819, essv5398147, essv5445184, essv5734860, essv6510551, essv6531808, essv5704275, essv5849560, essv5744956, essv6576204, essv6308427, essv5931825, essv6312831, essv5820686, essv5520942, essv5522620, essv6510324, essv5908006, essv5756921, essv6526136, essv6444336, essv6518090, essv5806628, essv5445366
SamplesNA20588, NA18502, HG00650, HG00442, NA19058, HG00608, NA18621, NA18947, NA19664, NA19399, NA12414, NA12843, NA11920, NA11931, HG00257, HG00151, NA18999, HG00153, NA18504, NA19684, NA19377, NA18530, HG01461, NA18633, NA12750, NA19067, HG00337, NA12813, NA19446, HG00138, HG01350, HG00589, NA19315, NA20589, HG01177, NA19678, NA20756, NA18558, NA18547, HG01492, NA18960, NA18618, NA18574, NA07048, NA11918, NA18582, NA20768, HG01083, HG01365, NA19384, HG00537, HG00311, HG00243, NA19079, NA18949, HG00158, HG00512, HG00281, HG00139, NA20759, NA19720, HG00335, NA18868, NA18985, HG00326, HG00323, HG01550, NA19789, HG00137, NA12777, NA18951, NA18605, NA12489, HG00731, NA18538, HG00266, NA19070, NA19056, NA12878, HG01095, HG00657, NA19717, NA19663, HG00344, NA19081, HG01498, NA20519, NA18572, NA18948, NA18981, HG00692, NA19064, NA18548, NA18907, NA18537, HG01047, HG01102, NA19084, HG00690, HG00404, NA12829, HG00331, NA19750, NA19453, NA18532, NA19059, HG01334, NA19009, NA19452, NA19682, NA18523, HG00463, NA12778, HG00126, NA19625, NA18593, HG01107, NA19729, HG00611, NA19652, NA18533, HG00336, NA19256, NA18517, NA18564, NA18628, HG00580, NA19444, NA20520, NA19010, HG01174, NA19428, NA19083, NA18943, NA20281, NA19360, NA12763, HG00662, NA18615, HG01342, NA12347, HG00614, HG00513, HG00478, NA19785, NA18631, NA19223, NA19779, HG00267, NA18609, NA19102, HG00112, NA19770, NA20826, HG00377, HG00274, NA20503, HG00595, NA18989, NA19129, HG00628, NA18624, NA19065, NA18612, NA19429, NA19074, HG01437, HG00581, NA18577, NA20772, HG00593, HG00626, HG00096, HG01060, HG00114, HG01441, NA19648, HG00592, NA19055, NA19397, NA11995, NA18592, HG01359, HG01052, NA18980, HG01079, NA18561, NA19704, NA18507, HG01188, NA11933, NA18599, HG01389, HG01374, NA18603, NA12045, HG00699, NA12004, NA12058, HG00150, NA20507, NA19190, NA18526, NA19068, HG01250, NA19746, NA19660, NA19076, NA18550, HG00251, NA18489, NA19728, NA18595, HG00702, HG00689, HG00173, NA19723, NA18635, NA19916, HG00330, NA20769, HG00634, NA18942, HG00736, HG00610, NA19197, HG01354, NA19313, NA12287, NA19054, NA19681, HG00590, NA12761, HG01134, NA12282, HG00277, NA19651, HG00683, HG00106, HG01170, HG00236, HG00262, NA19719, NA19371, NA18560, NA19075, NA18617, HG01176, NA19087, NA12889, HG00182, NA19002, NA19725, NA19189, NA18520, HG00637, HG00338, NA12828, NA18973, HG00530, HG00419, NA18638, HG00464, HG00108, NA20818, NA19007, HG00543, HG01136, HG00188, HG00560, NA19247, NA18613, HG00629, NA19657, HG01360, HG00183, HG00176, NA19082, NA19707, HG01384, NA12342, NA19077, HG00428, NA20809, NA20536, NA19391, NA19327, HG00475, HG00584, HG00500, NA19788, NA18976, NA19776, HG01094, NA19000, HG00373, HG01197, HG01383, NA12892, NA19225, NA19756, HG00141, NA18536, NA20542, NA18576, NA20296, NA19685, NA19401, HG00476, NA20801, HG00119, NA18535, NA11881, NA19834, NA18952, NA18543, NA18559, NA19749, HG00565, NA18950, HG00375, NA19732, HG01253, HG00136, HG00638, NA07051, HG00607, NA19786, HG00319, HG01108, NA20803, HG00256, NA19818, NA19759, NA19376, NA19078, HG00707, HG00672, HG00578, HG00312, NA18987, NA12749, HG00174, NA20807, NA19726, NA18972, HG00343, NA18552, HG00372, HG00252, HG01377, NA18984, HG00472, NA07056, NA19004, HG00345, HG01097, NA18549, HG01191, HG00437, NA20509, NA12383, HG00542, HG01173, NA12842, NA19703, HG01462, NA20766, NA12286, HG00671, NA19066, NA18861, NA10851, HG00559, NA12273, NA18565, HG01066, HG00315, NA20752, HG00244, HG00181, NA19359, NA19355, NA20332, NA18959, HG00115, NA18616, HG00449, HG00654, NA19443, HG01051, HG00261, NA20771, NA12399, NA18602, HG01522, HG00693, NA18988, HG00271, HG00663, NA07346, NA18563, HG00641, NA19373, NA18940, NA18519, HG00272, NA18597, HG01351, NA20774, HG01168, NA18567, NA19062, NA07347, NA18571, HG00334, HG00185, NA11930, NA20539, NA12275, HG01069, HG01080, NA20518, HG00148, NA12156, HG00156, HG00325, NA11932, HG00232, NA12044, HG00534, HG00705, NA19722, HG00160, HG00118, NA18990, HG01198, NA18557, HG01048, HG01133, NA20127, HG00253, NA18539, NA20753, HG01124, HG00154, HG00443, HG00268, HG01171, HG00282, HG00557, HG00732, HG00556, HG00583, HG00263, HG00275, NA18579, HG01149, NA18534, HG00239, HG00740, NA20525, HG00324, HG00284, NA18573, NA19461, NA11919, HG00651, HG00250, NA18626, HG00531, HG00479, HG00684, HG00140, NA18553, HG01497, NA19761, NA18555, HG00152, NA18963, HG00704, NA12144, NA19469, HG00246, NA18570, NA18858, NA12546, HG01075, NA19012, NA18974, NA12043, NA18953, HG01148, NA19375, NA19003, HG00258, NA18632, HG00254, NA19390, HG00265, NA19147, HG00625, NA19747, HG00353, NA19072, NA12272, HG01551, HG00734, HG01357, NA20530, NA20527, HG01375, HG00473, NA20778, HG00237, NA19679, HG01113, NA20544, HG01137, NA19783, HG00418, NA18610, HG01489, HG00620, HG00339, NA18501, NA06994, HG00259, HG00342, NA19716, NA19093, NA20510, NA18636, HG00310, HG00280, NA11843, NA19116, NA19080, NA19780, NA18983, NA19430, NA11892, HG01125, HG00171, NA12890, NA12006, NA19463, NA18623, NA20585, NA19063, NA12154, NA20754, NA19346, HG00553, NA19676, NA18620, HG00403, NA11830, HG01521, HG01098, HG01356, NA20543, HG00536, HG00231, HG00249, NA11829, HG00361, HG00524, NA20531, HG00640, HG00367, HG00318, NA18486, HG01465, NA18545, NA19393, NA19777, NA19057, NA18596, HG00566, NA18606, HG00179, HG00177, NA18870, NA12155, NA07357, HG01140, HG00327, NA18967, NA19374, NA19396, HG00127, NA19381, NA20796, NA19005, NA18944, HG01366, HG01070, HG00501, NA19382, NA19762, NA19448, HG01488, HG00448, NA20586, NA18982, NA20317, NA18619, NA12891, NA11992, HG00346, NA12283, NA19771, NA19088, HG00369, HG00270, NA19782, NA18964, NA18611, NA19404, HG01455, HG01067, NA19383, NA06984, NA18977, HG01495, NA19917, HG01072, NA19731, NA19385, HG00422, HG01440, HG00309, HG00427, NA19901, HG00159, NA19445, NA18975, NA20533, HG00739, NA11993, HG00260, NA18614, NA11831, NA10847, HG01353, HG00313, HG00133, HG01183, NA18544, NA19437, HG00596, HG00145, HG00328, NA20505, NA12003, HG00653, HG00577, NA18956, HG00701, HG00436, HG00320, HG00533, NA18637, NA20126, HG00619, HG00708, HG00635, HG01390, NA18566, HG01073, HG00273, NA19774, NA19449, NA11894, NA18856, NA12249, HG00117, HG00613, HG00525, HG00321, HG00157, NA12827, NA19257, HG00276, NA18634, NA19675, NA18945, HG01204, NA19436, NA20765, NA18546, NA18608, NA20522, NA18542, NA12716, HG01190, HG00285, NA18961, HG00366, HG00357, NA19435, NA18941, NA20804, HG00278, NA19773, NA19144, NA20785, NA12046, HG01494, NA20516, NA07037, NA19085, NA19398, HG00111, NA18971, HG01491, NA19060, HG00421, HG00656, NA20334, HG01254, HG01055, HG00123, HG00186, HG00698, HG00131, NA20528, HG01251, HG01378, NA19755, NA19758, NA18522, HG01112, HG00554, HG00180, NA18622, HG01061, NA18562, NA12776, NA18965
Known GenesHPSE
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667959
Frequency
Sample Size1151
Observed Gain0
Observed Loss741
Observed Complex0
Frequencyn/a


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