A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672087



Internal ID9591506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:38528422..38528746hg38UCSC Ensembl
chr21:39900346..39900670hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg38325
hg19325
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5426837, essv5957457, essv5472944, essv5464033, essv6023828, essv5467942, essv5691518, essv6021162, essv5715826, essv6023386, essv5912807, essv5412174, essv5728877, essv6001756, essv5563740, essv6320809, essv6164839, essv5765967, essv5874939, essv6564597, essv6431270, essv5646079, essv5704955, essv5729736, essv5796345, essv5862711, essv5408037, essv6579522, essv6399865, essv6355074, essv5827770, essv5545375, essv5693774, essv6569534, essv6276894, essv6579918, essv6144283, essv6235218, essv6379598, essv6246866, essv5414356, essv5486676, essv5635580, essv6412391, essv6507334, essv5830607, essv5675957, essv6010379, essv6016817, essv6374597, essv6262124, essv5569238, essv5765064, essv5830330, essv5462349, essv6154391, essv6240847, essv5828744, essv5798910, essv6031683, essv5687126, essv5611617, essv5496099, essv6046757, essv6412541, essv6319871, essv5778365, essv5607414, essv5880778, essv6480349, essv5736136, essv6494498, essv6123909, essv6508133, essv6279132, essv6149121, essv6172613, essv5429372, essv5883016, essv5830927, essv5437753, essv5440396, essv6296737, essv6024817, essv6398130, essv6172595, essv6450254, essv6440418, essv6404593, essv6298911, essv6581857, essv6122877, essv6348780, essv5881332, essv5556627, essv6342956, essv5912779, essv5810415, essv5878077, essv6154098, essv6279874, essv5827942, essv6578013, essv5494093, essv6141707, essv5973472, essv6304301, essv5455590, essv5720826, essv6100382, essv5611528, essv5412053, essv6065844, essv6443944, essv6242699, essv6452174, essv5631640, essv5532961, essv6319225, essv5671792, essv5537297, essv6391289, essv6335501, essv6277606, essv6204988, essv5431035, essv5514954, essv5877308, essv6405599, essv6377974, essv5757974, essv6326845, essv6451293, essv5976200, essv6277410, essv5784862, essv5480614, essv5453215, essv5896565, essv6341471, essv5623597, essv6028780, essv5803153, essv5479255, essv5563726, essv6462556, essv5485130, essv5695337, essv6511223, essv5502850, essv6187026, essv5794229, essv6219113, essv5447286, essv5606837, essv6475805, essv6291336, essv5776178, essv5887925, essv5738122, essv5944626, essv5661396, essv5866256, essv6279402, essv5456991, essv6391509, essv5925759, essv6318623, essv6246483, essv6576412, essv6018811, essv6008812, essv5859252, essv6032519, essv6328493, essv6399844, essv6507155, essv5648177, essv6435215, essv6308021, essv5454585, essv6250818, essv5484832, essv5956577, essv5420888, essv5467496, essv6058111, essv6330929, essv6205797, essv6062688, essv5843800, essv5871363, essv5984373, essv5975051, essv6046361, essv6459665, essv5403608, essv5903580, essv6040946, essv5874219, essv5892561, essv6045300, essv5563263, essv5480011, essv6554142, essv5439482, essv5996862, essv5764415, essv6411940, essv5617105, essv5430797, essv5776527, essv6522658, essv5732693, essv6466490, essv6575438, essv5992527, essv6050456, essv6167630, essv6524520, essv6255631, essv5903706, essv6000068, essv6236012, essv6192788, essv6295900, essv6218343, essv5740846, essv6468350, essv5563813, essv6101663, essv6465737, essv5847334, essv6452484, essv5460434, essv5465358, essv6198198, essv6124899, essv6130171, essv5507961, essv5891755, essv5397037, essv5857247, essv6395564, essv6047987, essv5587226, essv6070266, essv5826733, essv6411543, essv6556999, essv6512577, essv6210931, essv6553434, essv5666877, essv5830544, essv6425907, essv6360681, essv5972494, essv5520302, essv6021049, essv6317903, essv6241203, essv5796734, essv5514119, essv5646038, essv5921532, essv5930063, essv6241610, essv6138499, essv5816940, essv5891507, essv5996326, essv5674799, essv6200627, essv6536465, essv5541992, essv6061733, essv5947187, essv6054072, essv6352205, essv6385941, essv5595134, essv5918266, essv6508706, essv5524545, essv6314516, essv6064833, essv5567821, essv6153733, essv5593975, essv6464932, essv5652021, essv6494760, essv5463514, essv5523340, essv6243675, essv6058227, essv6580908, essv6190635, essv6323752, essv5398688, essv5926791, essv6382341, essv5943978, essv6330208, essv5836046, essv6294637, essv6440901, essv6298458, essv6421628, essv6315457, essv5669736, essv6440160, essv5581456, essv5779736, essv6057821, essv6233255, essv6038094, essv5481299, essv6557092, essv5658128, essv6482157, essv6515750, essv5763942, essv5495944, essv6332975, essv5694870, essv6156111, essv6187912, essv5924589, essv6078529, essv6426259, essv6534327, essv5769912, essv6380732, essv5513456, essv5991886, essv5823252, essv5568585, essv6280153, essv5604296, essv5962014, essv5973326, essv6419852, essv5846748, essv6458440, essv6241148, essv5781312, essv5571303, essv5744391, essv6373027, essv5522670, essv5784356, essv6229081, essv5820876, essv5789956, essv5753233, essv5723149, essv5655730, essv6044145, essv5545652, essv5403012, essv6343287, essv5398251, essv5840745, essv6168218, essv6347912, essv5814458, essv6091120, essv6339763, essv6389901, essv5791522, essv5488396, essv5599401, essv6453093, essv6556618, essv6116581, essv6329017, essv6028838, essv5848406, essv5946019, essv6180507, essv6355256, essv5702402, essv6153921, essv6256164, essv6362670, essv6350520, essv6115705, essv6490590, essv5742474, essv5424066, essv6395356, essv6258786, essv6294759, essv5833669, essv6550369, essv6091348, essv5622175, essv5939788, essv5698520, essv5629546, essv5705299, essv6431812, essv6528703, essv6250014, essv6415968, essv6270153, essv5574538, essv6517322, essv6122730, essv5808193, essv5948956, essv6280886, essv6451407, essv6209799, essv5941501, essv6487471, essv6024092, essv6463665, essv5780415, essv6091452, essv6250297, essv6034347, essv6555030, essv5697788, essv6119109, essv5980911, essv6434962, essv5969895, essv5729162, essv5552340, essv5563701, essv5494617, essv6368308, essv5922062, essv5659310, essv5457153, essv5860052, essv6382580, essv5826777, essv6419322, essv5636298, essv5895209, essv6362078, essv6402345, essv6003286, essv6237262, essv5632047, essv5697427, essv5690928, essv6207047, essv5789179, essv5440417, essv6052043, essv6548330, essv6373451, essv6481657, essv6231998, essv5468972, essv5860578, essv6320670, essv6531930, essv5883604, essv6003543, essv5475584, essv5711305, essv5513648
SamplesHG01357, HG01441, NA19012, NA11881, NA19207, NA18870, NA19312, NA12154, NA12489, HG00537, HG00252, NA18605, HG01440, NA07347, NA18616, NA20771, NA19904, NA18951, NA20527, HG00619, NA18535, HG00418, NA19819, NA18523, HG00500, HG01173, NA11920, HG01083, NA19209, HG00112, HG00186, HG00464, NA12347, HG00131, NA20544, HG00565, NA18526, NA20535, HG00160, NA11918, NA18603, HG01389, HG01197, NA19359, HG01051, HG01365, NA19334, HG00189, NA19331, NA19453, HG01488, NA12828, NA18947, HG00542, HG01174, HG00368, HG00148, HG01350, NA12005, HG00139, NA18489, NA19144, HG01167, NA18507, NA20539, HG00683, HG00698, HG00111, HG00187, HG00404, NA07051, NA19651, HG00280, HG01101, HG01168, HG00177, HG00319, HG00737, NA18557, NA20803, NA19761, HG01171, NA18949, NA18868, NA20340, HG00554, NA12414, NA19077, HG01107, HG00158, HG00556, HG00242, NA12763, HG00346, NA18967, NA19239, NA19076, HG01375, HG00421, NA12004, NA18536, NA18622, NA19197, HG00096, HG01048, HG01061, NA20530, HG01183, NA20127, HG00315, NA12761, NA18956, HG00149, HG00338, NA18959, HG00533, NA18609, HG00125, NA11843, NA19985, NA11831, NA11894, NA12400, NA11995, NA18916, HG00174, HG00276, HG00284, NA19700, HG00343, NA12144, NA19082, NA12751, NA19000, HG00373, NA19247, HG01111, NA19395, HG01097, NA07346, NA12716, HG01465, NA19129, NA20291, HG00640, NA12778, HG00325, NA12348, HG00185, NA18968, NA12275, HG00176, NA19119, NA19664, HG00265, HG00501, HG00672, HG01170, HG01069, HG00249, NA11892, HG00277, HG01080, HG01351, NA20815, HG00740, HG00524, HG01494, NA19720, HG00534, HG00525, NA12283, NA18910, HG01383, NA19789, HG00236, NA18940, NA19235, NA12891, NA18987, NA20525, HG00427, HG01137, NA19921, NA19138, NA12272, HG01095, NA18909, NA19391, NA19201, NA18538, NA19009, NA20518, NA19116, NA19747, HG00118, HG00311, NA19818, NA19446, NA20509, HG01390, NA12878, NA20507, NA18548, NA20317, NA11830, NA11992, NA12003, HG00123, HG00281, HG00285, NA19225, NA11993, NA12399, NA19399, NA20812, NA19160, NA19655, HG01366, NA18499, NA18571, HG00422, NA18924, NA20543, HG01108, HG00367, HG01125, NA11829, NA19130, HG00251, NA19171, NA19240, NA20768, HG00320, HG00275, HG00324, HG00690, NA12717, NA18532, NA18549, NA18853, NA19204, HG00183, HG01374, HG00473, NA18981, HG00137, HG01462, NA18908, NA19079, NA19381, NA20524, HG00626, NA06994, HG00143, NA19758, HG00336, HG00476, NA20772, HG00345, NA19092, NA20538, NA19200, HG00271, HG00278, NA19661, NA20519, NA19779, HG00136, HG00126, NA07000, NA19746, HG00327, HG00361, HG01198, HG00323, NA19137, NA12827, NA12043, NA19152, NA19445, NA19625, HG00152, HG01359, HG01518, NA12249, HG00318, HG00536, NA12750, NA12748, NA11930, NA20522, NA20503, HG01072, HG01052, HG01055, NA18975, HG00145, HG01342, NA20516, NA18612, HG00731, HG00245, NA20508, HG00310, NA18550, HG00261, NA18511, NA06989, NA19670, NA19317, NA12813, HG01492, NA18972, NA20816, HG00375, HG00173, HG00326, HG01491, NA20786, NA19782, NA19461, HG00190, NA19210, HG00106, NA20588, HG01188, HG01204, NA12776, NA19004, HG00557, HG00366, NA11893, NA18965, NA12044, NA19147, NA19776, HG00479, NA19654, NA20586, HG00247, HG01133, HG00256, HG00244, HG00154, HG00321, NA19726, NA19428, NA20585, NA18912, NA12843, NA18624, NA18934, HG00179, HG00250, HG01140, NA18508, NA19054, NA20819, NA20356, NA20515, NA19652, HG00583, NA18566, HG00337, NA11994, HG00140, NA18960, NA19900, NA19722, HG00372, HG01047, HG00689, NA18856, HG00330, NA07048, NA19440, NA19066, NA11933, NA20541, HG00150, NA19774, NA20765, NA18547, HG00258, NA12829, NA18976, NA19256, HG01136, NA18973, HG00264, NA19658, NA19663, HG00403, NA12830, HG00584, HG00133, NA18539, NA12006, NA19213, NA19676, HG00159, NA19153, NA12046, HG00108, NA18537, NA19172, NA19759, NA12892, HG01066, NA20512, HG00629, NA18498, NA18522, NA20334, NA20344, HG00260, NA18502, NA19657, NA19713, NA19731, NA20540, NA19098, HG00239, NA19901, HG00282, HG00232, NA18504, NA19704, NA20818, NA18564, NA18858, NA18942, NA19347, NA20828, NA19332, NA19909, HG00513, NA20582, HG00512, HG01070, NA19707, NA18562, NA19131, NA19159, HG01060, NA19382, NA18579, NA18974, NA18985, HG01149, NA10851, NA18582, NA18999, HG00590, HG00595, NA20534, NA19078, HG00611, HG01334, NA12749, NA06984, NA18867, HG00663, NA12156, NA18560, HG00580, NA18971
Known GenesERG
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672087
Frequency
Sample Size1151
Observed Gain0
Observed Loss468
Observed Complex0
Frequencyn/a


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