A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673118



Internal ID9592537
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:136261477..136268161hg38UCSC Ensembl
chr6:136582615..136589299hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg386685
hg196685
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5567179, essv6565950, essv5515659, essv5683069, essv5886814, essv6338302, essv5914659, essv6141513, essv5537062, essv6513594, essv5837670, essv6463743, essv6455712, essv5577059, essv5835840, essv5973758, essv6456748, essv6039072, essv6365610, essv6493129, essv5576173, essv5419813, essv5583652, essv6163760, essv6188184, essv6552190, essv5741681, essv5803368, essv5767571, essv6446194, essv6100852, essv6340809, essv6584676, essv5703824, essv5820749, essv5737724, essv6371443, essv6260161, essv6029859, essv5513143, essv6046912, essv5416826, essv6152328, essv6131701, essv6577737, essv6065862, essv6254159, essv5828518, essv6219313, essv6391174, essv5451018, essv5941367, essv6401681, essv6496255, essv5514927, essv5818571, essv6252561, essv5396535, essv5623198, essv6471636, essv6576841, essv5653616, essv6129679, essv5714077, essv5450841, essv5656375, essv6492723, essv6100946, essv5608717, essv6530162, essv5948169, essv6431289, essv5578215, essv6544815, essv5911970, essv5547131, essv6529433, essv5519832, essv6004568, essv6391815, essv6471579, essv6136557, essv6594119, essv5956356, essv5628379, essv5628161, essv5586297, essv5768348, essv6218377, essv6177386, essv5884943, essv5733429, essv6464002, essv6497806, essv5697466, essv5725787, essv5884098, essv6410971, essv6598307, essv5472278, essv5906574, essv6116562, essv5407444, essv6295565, essv6495896, essv5755190, essv5692152, essv5654789, essv6042352, essv6251055, essv5504756, essv5897683, essv5547888, essv6175097, essv6177502, essv5498754, essv6425092, essv5902326, essv6427518, essv6076896, essv6139741, essv6486625, essv6245592, essv5930751, essv5511857, essv6119549, essv6482693, essv6581123, essv6538877, essv6285834, essv6430074, essv6382062, essv6047675, essv6466046, essv6495635, essv5907673, essv5884148, essv6018988, essv6006726, essv5745845, essv5528521, essv5671279, essv5932228, essv5503390, essv6291983, essv5423269, essv6219444, essv6033418, essv5435083, essv6288290, essv5652394, essv5802881, essv6033161, essv6168858, essv6462181, essv6172900, essv5402867, essv5554033, essv5595860, essv6528285, essv6359334, essv6019516, essv6133144, essv6175328, essv6401084, essv6070540, essv6244149, essv5819755, essv5955501, essv5980837, essv5993242, essv6342917, essv6025525, essv6428427, essv6383538, essv5862889, essv5833592, essv6336939, essv6329011, essv5473704, essv5509690, essv6148069, essv6209882, essv6391941, essv5838109, essv6223664, essv6575518, essv6315301, essv6460325, essv5806664, essv6320513, essv6036994, essv5622034, essv6159863, essv5575675, essv5911006, essv5437982, essv5466120, essv6092469, essv5763620, essv5670229, essv6113641, essv6079765, essv5400326, essv5907628, essv6425715, essv5706507, essv6267430, essv5619615, essv6485185, essv6152468, essv5876278, essv6096875, essv6432465, essv5995581, essv5654871, essv5932662, essv6189485, essv5504101, essv5570532, essv5687857, essv5902991, essv6071382, essv5914072, essv5767625, essv5989064, essv6024660, essv6013548, essv5476256, essv5544008, essv5521091, essv6249090, essv6420724, essv6311881, essv5412993, essv6245828, essv5633075, essv5458239, essv6333253, essv6441109, essv5435247, essv6299375, essv6422945, essv5487408, essv5799851, essv5487085, essv5996709, essv6351444, essv6343251, essv5956567, essv5898401, essv5944423, essv6414435, essv5955918, essv5640455, essv5567528, essv5455567, essv6444759, essv5792634, essv6084506, essv6308978, essv6578276, essv5820492, essv6448928, essv5688344, essv6400989, essv6471311, essv6442107, essv5528362, essv5839333, essv5972739, essv5552443, essv6146024, essv5576073, essv6462804, essv5569973, essv5668516, essv5855275, essv6383873, essv6406857, essv6260526, essv5583877, essv5836900, essv6481085, essv6271885, essv6382226, essv6397405, essv6065541, essv5478802, essv5595411, essv5940132, essv6584340, essv6219849, essv5785245, essv5829433, essv6333305, essv6401564, essv5574075, essv5846519, essv5768587, essv5981810, essv6434930, essv5596494, essv5612869, essv6085144, essv5735033, essv6308123, essv5596639, essv6058997, essv5570683, essv5899577, essv6351589, essv5461218, essv5763839, essv5658289, essv5931093, essv5798840, essv5862455, essv5961742, essv5415195, essv5724589, essv5431711, essv5857983, essv5913881, essv5650107, essv5398579, essv6198711, essv5651726, essv5623709, essv5582095, essv6513246, essv6397865, essv6214935, essv6399065, essv6301416, essv5702379, essv6456370, essv6239627, essv5893280, essv5496489, essv5852447, essv5668824, essv5787621, essv6527340, essv6580122, essv6363812, essv6176294, essv5728611, essv6470813, essv6137879, essv5804814, essv5854372, essv5574722, essv5877371, essv6319961, essv6361876, essv5552718, essv5510033, essv5853156, essv6068901, essv6182833, essv6190430, essv6447519, essv6000900, essv5408284, essv6216721, essv5565898, essv6211861, essv5657231, essv5860997, essv6571965, essv5643240, essv5828882, essv5948185, essv6464117, essv5614745, essv6205554, essv6239916, essv5871285, essv6006494, essv5801373, essv6369523, essv5754794, essv5968715, essv6502478, essv6306108, essv5436279, essv6371566, essv6003779, essv5547584, essv6052152, essv5451987, essv5653260, essv5762482, essv6043675, essv6283230, essv5912951, essv6347765, essv6170387, essv5397796, essv5426650, essv5684690, essv6465460, essv5436400, essv5843206, essv5568172, essv5982673, essv6265895, essv6128033, essv5898805, essv5737864, essv5701907, essv6330480, essv6252941, essv5418013, essv6030458, essv6556263, essv5599478, essv6074736, essv5898800, essv6367900, essv5444929, essv5879694, essv5982252, essv5461494, essv5711386, essv6137028, essv5594598, essv6514292, essv5880080, essv5498842, essv5743977, essv6253122, essv6535889, essv6197843, essv5544621, essv5466732, essv5882632, essv5457249, essv5953942, essv5663566, essv5857591, essv5727368, essv6051940, essv6080152, essv6392847, essv5529078, essv6007177, essv6399837, essv5819456, essv5991177, essv5771475, essv5758852, essv5690682, essv6171404, essv5994358, essv5961679, essv5767602, essv5962413, essv6085164, essv5713406, essv5574019, essv5851230, essv6554233, essv6176672, essv6301715, essv5663888, essv6363817, essv5780203, essv5544846, essv6265457, essv6551600, essv5653383, essv6418392, essv6343123, essv5582262, essv6030809, essv6269965, essv5544752, essv5865707, essv5510900, essv5597703, essv6053041, essv6208977, essv6595117, essv5520315, essv5579462, essv6063570, essv6352674, essv5770448, essv6228220, essv5558123, essv5580197, essv6342368, essv6487543, essv5414677, essv6222902, essv5698575, essv5808370, essv5429301, essv5791333, essv6239714, essv6128969, essv5792932, essv6571115, essv5469226, essv6034398, essv6416261, essv5739053, essv6027231, essv5449293, essv5942976, essv5973824, essv5929420, essv5657081, essv5731827, essv5943232, essv6161397, essv5832692, essv6252888, essv6447877, essv5434932, essv6387568, essv6319899, essv6354783, essv6566629, essv5582096, essv6440351, essv5789516, essv6522993
SamplesHG01441, NA18870, NA19248, NA12154, HG01440, HG00257, NA18871, HG00418, HG01519, NA12286, NA19819, NA12342, NA18523, NA19437, HG00500, NA11920, HG01083, NA20510, HG00464, NA12347, NA19093, NA18526, NA20535, HG00160, NA11918, NA19469, NA19223, NA19435, HG01079, NA10847, NA18545, NA19319, NA20296, NA20759, HG00463, HG01197, HG00657, NA19334, HG00577, NA19788, NA19453, NA20800, HG01082, NA18953, HG01488, NA18517, HG00428, NA18947, HG00542, NA19449, HG00148, NA19920, HG00739, NA18489, NA18546, HG01167, NA12058, NA18507, NA20805, HG00111, NA18963, HG00187, HG00404, NA07051, NA19651, HG00335, HG01101, NA19257, NA19701, NA20798, HG00737, NA20322, NA18557, NA19472, NA20755, NA20521, NA18943, NA18950, HG01171, NA18628, NA18868, NA20340, NA19062, HG01550, NA19463, NA20505, NA11919, NA12763, NA19239, NA18627, HG01375, HG01378, NA19917, NA20811, NA18536, NA19675, HG00259, NA19197, NA19443, HG00096, HG01048, NA19107, HG01061, NA20127, HG00315, NA18956, NA19429, NA19908, HG00338, NA18959, NA18609, HG01360, NA11843, NA19985, NA11831, NA12400, NA20520, HG01253, NA11995, NA18916, HG00634, HG00276, HG01187, NA19457, NA12777, NA12234, NA19700, HG00343, NA12144, NA20341, NA19728, NA19190, NA20769, HG00373, NA19247, NA19360, HG00267, NA19313, NA19786, HG01097, NA07346, HG01465, NA19129, NA19771, HG00233, NA19372, NA20291, HG01191, NA19374, HG00732, NA12778, NA12348, NA19716, NA20790, NA20795, NA18986, NA19102, NA20753, NA12275, NA19005, NA19002, HG00265, HG01170, NA18961, HG00277, HG00103, HG01080, HG01351, NA20815, HG00740, HG00524, NA20542, NA19720, HG00534, NA20766, NA12283, NA18910, HG01383, NA20813, NA19789, NA19777, HG00120, NA18940, NA19235, NA12891, NA18987, NA20525, HG01137, NA19921, NA19138, NA19729, HG01095, NA18909, NA18538, NA12413, NA20518, NA12889, NA20289, NA19747, NA20287, NA19818, HG00654, NA12878, NA18548, NA20317, HG00123, HG00285, NA18944, NA19225, NA12546, NA18499, NA19732, NA18924, NA19371, NA20543, NA19198, HG01108, NA20758, NA20792, NA11829, NA19130, HG01177, NA19240, NA19346, HG00119, HG00320, HG00275, HG00690, NA12717, HG00183, HG00473, NA19350, NA20804, NA20806, NA18615, HG00702, NA18555, NA19661, NA19779, HG00531, HG01354, NA18553, NA12827, NA18964, NA19445, NA19625, HG00734, HG01359, HG01518, NA12249, NA18861, HG00318, HG00536, HG00607, NA12750, NA12748, NA07037, NA20278, NA20809, HG01250, HG01072, HG01052, HG00100, HG01075, NA18933, NA19404, HG01055, NA07056, NA18874, NA18612, HG00731, HG00245, NA19783, HG00736, HG00449, NA19060, NA18570, NA19003, NA19072, NA06989, NA20802, NA20775, NA18948, NA19670, NA19317, HG00117, HG01492, NA19451, NA20816, NA20342, HG00173, NA18573, NA18608, NA18542, NA19782, NA19461, NA19834, NA20588, HG01188, HG01204, HG01461, NA19648, NA19004, NA19678, NA11893, NA19108, HG00146, NA18965, NA18488, NA19355, NA19780, NA19467, HG01551, NA18873, NA19147, NA19776, NA19654, HG00247, HG01133, HG01521, NA18632, NA20770, HG00244, NA19762, HG00543, HG01254, HG00339, NA19726, NA20761, NA19067, NA20585, NA18912, NA19383, NA19982, NA20533, HG01140, NA18508, NA19054, NA20819, HG00472, NA19652, NA12383, NA11994, NA19068, NA12155, NA18576, HG00180, NA18563, NA19900, NA20783, HG00372, NA18991, HG01047, NA19396, NA18856, HG00141, HG00330, NA07048, NA18638, NA19440, NA19066, NA11933, NA20541, HG00150, NA18547, HG00258, NA12829, NA19256, HG01113, NA19835, NA20282, NA20336, HG00264, NA19773, NA19658, NA18982, NA19681, NA19663, NA19679, HG00357, NA20589, HG00237, NA19316, NA19684, HG00133, NA18539, NA20773, HG00114, NA12006, NA19213, NA19676, NA12046, NA19785, HG00108, NA18537, NA18620, NA12892, NA19703, HG01066, NA19375, NA20512, NA18498, NA20826, NA18486, NA06986, NA18522, NA19238, HG01455, NA20344, NA18502, NA19713, NA20540, HG01073, NA18558, NA18977, NA19901, HG01356, NA18504, NA19704, NA20818, HG00478, NA18487, NA18564, NA18858, NA18942, HG00116, NA19347, NA20774, NA19909, HG00513, NA18988, HG00153, HG00512, HG01070, NA18562, HG01060, NA19382, NA19318, NA18985, HG00589, NA18945, HG01149, HG00151, NA11832, NA10851, NA18582, NA18999, NA20581, NA20537, HG00590, NA18552, NA20534, NA18983, NA18599, NA18907, NA19078, HG00611, NA12749, NA20332, NA06984, NA18867, NA18565, HG00663, HG00262, NA18989, HG01112, NA19719, HG00311, NA18602, NA18577, NA19099, NA19649, NA19452, NA20507, NA20513, NA18533, NA11992, NA19064, HG01464, NA19063, NA12399, NA19399, NA19717, NA20812, NA12842, NA19655, HG00422, NA19916, NA19070, NA19470, NA18984, NA18611, HG01125, NA20768, HG00324, NA20528, NA18532, NA18549, NA18574, NA18853, HG01374, HG01462, HG01489, NA19079, NA19473, HG01110, NA19448, NA20502, NA20772, NA19092, NA20538, NA19750, NA19007, NA19456, NA18519, NA19065, NA18980, HG01067, HG00361, HG01198, NA19012, NA11881, NA18621, NA18605, NA07347, NA20787, NA19712, NA20771, NA19904, NA20527
Known GenesBCLAF1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673118
Frequency
Sample Size1151
Observed Gain0
Observed Loss530
Observed Complex0
Frequencyn/a


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