A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676792



Internal ID9942897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:67112349..67113280hg38UCSC Ensembl
chr15:67404687..67405618hg19UCSC Ensembl
Cytoband15q22.33
Allele length
AssemblyAllele length
hg38932
hg19932
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv457e199
Supporting Variantsessv5514982, essv6283815, essv5914459, essv6317521, essv6413337, essv5625625, essv6290934, essv6338744, essv6492565, essv6000470, essv5564338, essv6255627, essv6292457, essv6587352, essv6194935, essv5639037, essv5811379, essv5544158, essv6466615, essv5576145, essv6185153, essv5720676, essv6088921, essv5411117, essv6270015, essv5955731, essv5564481, essv6043760, essv6164060, essv5729379, essv5733980, essv6299348, essv5466265, essv5529951, essv5746987, essv5586269, essv6122492, essv6357906, essv6146717, essv5430860, essv5970278, essv5547600, essv6155157, essv6190558, essv5902188, essv5838363, essv6032166, essv5825969, essv6481535, essv5703153, essv5495069, essv5803555, essv6183252, essv6007088, essv6538172, essv6301305, essv5701299, essv6133906, essv6039997, essv6071708, essv5494967, essv6036865, essv6075349, essv6352979, essv6404715, essv5860999, essv5964705, essv5673065, essv5469208, essv6259514, essv5456031, essv6062484, essv6540277, essv6455614, essv5443056, essv5950484, essv6428473, essv5908978, essv5913727, essv5773574, essv6252427, essv5899116, essv5473008, essv5519518, essv6075296, essv6541153, essv5783324, essv6059654, essv5951757, essv5590289, essv5943582, essv5428927, essv6422457, essv5483623, essv5898480, essv5533655, essv6119337, essv5618790, essv6010176, essv6502836, essv6286064, essv6510176, essv5750968, essv6028786, essv6393881, essv6325068, essv5903492, essv6488633, essv6236185, essv5953757, essv5814742, essv5580721, essv5536920, essv5556837, essv5635227, essv5426317, essv5760695, essv6046979, essv5454584, essv5490750, essv6421666, essv6209337, essv5404333, essv6209424, essv5809474, essv6313206, essv5953119, essv5992778, essv6131802, essv5776966, essv5921719, essv5970072, essv5964021, essv6237427, essv6443125, essv6264973, essv6045384, essv6308064, essv6318679, essv5775619, essv5568029, essv6350919, essv6335253, essv5919448, essv6345576, essv5442513, essv5881824, essv5999911, essv6584236, essv6173468, essv6052026, essv5675560, essv6162177, essv6286165, essv5572243, essv6139723, essv5721315, essv5820922, essv5861923, essv5781558, essv6506499, essv5901286, essv6139420, essv6319383, essv6496863, essv5676238, essv6037388, essv5451131, essv5821125, essv5598903, essv5403354, essv6305965, essv6279075, essv5828562, essv6440025, essv6523136, essv5758720, essv6235963, essv6103219, essv6252466, essv5567051, essv5937706, essv5450206, essv5923757, essv6302307, essv6530305, essv6282113, essv5902055, essv6123570, essv5447721, essv6058259, essv6253309, essv5508551, essv5753852, essv6511582, essv6348590, essv5553570, essv6152612, essv5581830, essv5398058, essv5541059, essv6147905, essv6509926, essv6516389, essv6408069, essv5663533, essv5954636, essv6174781, essv5853965, essv5641253, essv6448075, essv5566934, essv6526366, essv6516806, essv6527965, essv6406635, essv6080424, essv5786334, essv5639096, essv6510239, essv6595119, essv5408716, essv6406401, essv6083608, essv6576591, essv5997858, essv5858449, essv5886292, essv5657378, essv6535135, essv6004109, essv5892135, essv6207218, essv5563748, essv5966318, essv6568757, essv6584960, essv6408460, essv6207909, essv5494217, essv5739658, essv5418088, essv5490962, essv6222300, essv6261057, essv5688938, essv5942390, essv6580217, essv6439242, essv6249378, essv5610925, essv6166564, essv6240814, essv5708888, essv5980562, essv6140808, essv5746388, essv6241912, essv6231046, essv6325837, essv6201940, essv6072069, essv6039157, essv6031113, essv6295942, essv6537483, essv5506398, essv5574971, essv5980285, essv5693921, essv5935044, essv5844072, essv5767650, essv5432341, essv5959759, essv5595358, essv6172353, essv5739637, essv6484460, essv6286962, essv6222688, essv6037255, essv5815687, essv6207588, essv5759017, essv6153792, essv6279124, essv6327108, essv6217394, essv5827613, essv6402547, essv6407254, essv5840327, essv5556581, essv5781453, essv5870718, essv6088683, essv5642386, essv5730235, essv5977557, essv5950351, essv6235903, essv6538026, essv6314061, essv6038473, essv5656255, essv6262375, essv6277189, essv6489336, essv6269529, essv5687584, essv5544347, essv6254963, essv6198415, essv6275138, essv5824972, essv6264903, essv5783941, essv6210895, essv5654659, essv5911849, essv5839295, essv5918487, essv5815140, essv6179345, essv6542008, essv6184886, essv6013057, essv6583248, essv5474405, essv6057454, essv5412942, essv5491485, essv6293410, essv6579365, essv5686701, essv5476582, essv6446719, essv5637581, essv6581369, essv6140120, essv5648351, essv6072354, essv5705456, essv5458477, essv5728793, essv5806977, essv6054036, essv6297864, essv6411985, essv5573249, essv6038605, essv6388323, essv6499700, essv6510860
SamplesNA19701, HG00650, HG00442, HG01173, NA19058, NA19703, HG00608, NA18621, NA20766, NA19664, NA18565, HG00257, HG00315, NA18999, NA18530, NA18616, HG00449, HG00654, NA19443, NA19920, NA18510, NA20806, NA18602, HG00693, NA18988, HG00271, NA19379, HG00589, NA18597, NA19678, NA18923, NA18567, NA20795, NA18960, NA19062, NA07048, HG01083, HG01365, HG00185, NA19904, NA19384, HG00243, NA18949, HG00512, HG01069, NA19720, HG01080, HG00148, NA20775, NA18868, HG00325, HG00534, NA19235, HG00705, HG00160, NA18990, HG01198, NA18557, HG01048, NA18985, HG01133, NA20757, HG00323, HG01550, HG00253, NA19921, HG01124, HG00137, NA12777, HG00154, NA19908, HG00282, NA19070, NA19056, NA19403, HG00557, HG00657, NA20810, NA19455, NA19663, HG00556, HG00583, HG00344, HG00275, NA18579, NA18871, NA18534, NA19064, HG01102, HG00284, HG00651, HG00690, HG00404, HG00531, HG00479, HG00684, NA19453, NA06989, HG01101, NA18553, NA19009, NA18555, HG00146, NA18963, HG00704, NA19682, NA19469, NA19395, NA19625, NA18858, NA18593, NA19012, NA18953, HG01148, NA19003, NA19729, NA18632, NA19652, NA19440, HG00254, NA19390, HG00336, HG00265, HG00625, NA18564, HG00353, NA18628, NA19331, NA19010, HG01174, HG01375, NA19835, HG00473, HG00237, NA19679, NA19470, NA19324, HG01137, NA19083, NA18943, NA19360, NA19783, NA12763, NA18615, HG00339, HG00614, NA19785, NA18631, NA19779, NA19716, NA19474, NA18636, NA20786, HG00112, NA11843, NA19080, NA19780, NA18983, HG00377, HG00595, NA19312, HG01125, HG00628, NA18624, NA18623, NA19063, NA18612, NA19346, NA19074, NA18487, HG00553, HG00581, NA19676, NA18620, HG00593, HG00626, HG01060, HG00592, HG01356, NA20543, HG00536, NA11829, HG00361, HG01359, HG00524, NA19914, HG00187, NA18980, HG01079, HG01374, HG00306, NA20813, NA18917, HG00640, HG00367, HG00699, NA18545, NA19393, HG01456, HG00566, NA18606, NA20808, HG00177, NA19190, NA19068, NA19746, NA19660, NA19381, NA19076, NA18550, HG01070, HG00501, NA18489, NA19448, NA18595, HG00702, HG00448, NA20586, NA19723, NA18635, NA19916, HG00330, NA12348, HG00736, HG00610, NA19088, HG00247, NA19054, NA19681, HG00590, NA20541, NA18611, NA12761, HG01134, HG00277, HG01067, NA19383, HG00683, NA18874, NA06984, NA18977, NA19917, NA19719, HG01072, NA19371, NA18560, NA18617, NA19385, HG00422, NA19471, NA19317, NA18986, HG00309, HG00427, NA20811, NA19901, NA19725, HG00637, HG00338, NA19456, NA19445, HG00530, HG00419, NA18638, HG00108, HG00260, NA19007, NA18614, HG01353, HG00543, HG00560, NA19247, NA18613, HG00183, NA19082, NA19707, NA18934, HG00596, NA19077, HG00428, NA19462, HG00653, HG00577, HG00701, HG00436, HG00320, HG00533, HG00500, NA19788, NA20126, NA18630, HG00619, HG00708, HG00635, HG01390, HG01197, NA18499, NA18856, HG00613, HG00525, NA19338, NA18634, NA19675, HG01204, NA18576, NA20765, NA18608, NA19685, HG00119, NA18535, HG00285, NA19834, NA18961, NA18952, NA18543, NA18559, NA19749, NA18950, HG00278, NA19380, NA20785, NA19334, HG00607, HG01108, NA19085, NA06986, NA19818, NA19376, NA19078, HG00707, HG00111, NA20348, HG00578, HG01491, NA18987, HG00656, NA19713, HG01055, HG00174, HG00698, HG00131, NA19213, NA18552, HG00372, HG00252, HG00472, HG01378, NA19004, HG01082, NA19758, HG00345, NA18522, HG00180, NA18622, HG01061
Known GenesSMAD3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676792
Frequency
Sample Size1151
Observed Gain0
Observed Loss355
Observed Complex0
Frequencyn/a


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