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 Variantsessv5785245, essv6139741, essv5698575, essv6137879, essv6361876, essv6343123, essv5498842, essv5789516, essv6283230, essv5436400, essv6342368, essv5799851, essv6581123, essv5472278, essv5835840, essv5982673, essv5792932, essv6465460, essv6456748, essv5429301, essv6152328, essv6065862, essv6223664, essv6354783, essv5567179, essv5402867, essv6320513, essv5521091, essv6544815, essv6401681, essv5755190, essv6495635, essv5884943, essv5519832, essv6033418, essv6308978, essv5879694, essv5787621, essv5580197, essv6434930, essv6116562, essv6427518, essv5956567, essv5570532, essv6538877, essv5552443, essv5547888, essv6486625, essv6471311, essv6133144, essv6514292, essv6265457, essv6146024, essv6070540, essv5684690, essv5663566, essv5877371, essv6363817, essv5567528, essv5547584, essv5898805, essv6464002, essv5833592, essv5547131, essv5728611, essv5633075, essv6047675, essv5855275, essv5993242, essv6019516, essv5595411, essv5972739, essv6333305, essv5727368, essv6036994, essv5829433, essv5496489, essv5802881, essv5653383, essv6006494, essv5973824, essv5771475, essv6182833, essv6319899, essv5768587, essv6432465, essv5435247, essv6416261, essv6007177, essv6024660, essv6219313, essv6113641, essv6071382, essv6039072, essv6159863, essv5397796, essv6497806, essv5537062, essv5932662, essv5767571, essv5724589, essv6422945, essv6208977, essv5503390, essv6399065, essv5932228, essv6530162, essv6359334, essv6188184, essv6291983, essv6577737, essv5697466, essv6330480, essv6189485, essv6338302, essv6383538, essv6084506, essv6253122, essv5701907, essv5741681, essv5415195, essv6551600, essv6128033, essv6571115, essv5458239, essv6336939, essv6371566, essv5768348, essv5973758, essv6119549, essv5692152, essv6260161, essv5953942, essv6447877, essv5574019, essv5862455, essv6382226, essv6252561, essv6342917, essv5650107, essv5509690, essv6487543, essv5407444, essv5871285, essv5902991, essv6219444, essv5622034, essv5653616, essv5668824, essv6410971, essv6285834, essv6211861, essv5886814, essv5743977, essv5880080, essv5853156, essv6462181, essv6308123, essv5582262, essv6365610, essv5554033, essv6464117, essv6492723, essv5544008, essv5640455, essv5583652, essv5658289, essv6171404, essv6428427, essv6161397, essv5511857, essv5819755, essv5758852, essv6136557, essv5608717, essv6214935, essv6216721, essv6033161, essv5595860, essv5739053, essv6219849, essv5504756, essv6295565, essv6288290, essv5780203, essv5818571, essv6352674, essv5515659, essv6470813, essv5989064, essv6462804, essv5558123, essv6400989, essv6397405, essv5510900, essv5478802, essv6481085, essv6444759, essv6301715, essv5513143, essv5762482, essv5408284, essv5498754, essv6594119, essv6163760, essv6311881, essv6460325, essv5846519, essv5911970, essv6197843, essv6052152, essv5931093, essv5544846, essv6260526, essv5854372, essv6391941, essv6228220, essv6252941, essv5980837, essv5912951, essv6051940, essv6554233, essv6406857, essv5737864, essv5767625, essv5897683, essv5656375, essv5451018, essv6340809, essv5423269, essv6566629, essv6363812, essv5504101, essv5651726, essv6079765, essv5597703, essv6513246, essv5449293, essv6571965, essv5767602, essv6058997, essv5529078, essv5594598, essv6495896, essv5599478, essv6085144, essv5426650, essv5737724, essv5770448, essv5469226, essv6218377, essv6329011, essv5418013, essv5714077, essv5994358, essv6513594, essv5832692, essv6401564, essv6420724, essv6502478, essv5906574, essv5466120, essv5431711, essv5476256, essv6576841, essv6425092, essv6319961, essv6190430, essv6471636, essv6535889, essv6367900, essv5575675, essv6177386, essv6347765, essv5576073, essv5703824, essv6493129, essv6271885, essv5528521, essv6471579, essv5643240, essv5725787, essv6556263, essv6137028, essv5882632, essv5628161, essv6441109, essv5940132, essv6391815, essv6254159, essv5578215, essv5576173, essv6397865, essv6351589, essv6239627, essv5416826, essv5820749, essv5893280, essv5623198, essv6170387, essv6148069, essv6245828, essv5437982, essv5612869, essv5435083, essv6076896, essv6176294, essv6440351, essv5955501, essv5487085, essv6000900, essv6034398, essv6027231, essv5668516, essv6430074, essv5955918, essv5851230, essv5898401, essv5941367, essv6030458, essv6131701, essv5913881, essv6482693, essv6431289, essv6100946, essv5654789, essv5942976, essv5860997, essv6175097, essv6085164, essv5930751, essv5436279, essv5801373, essv5596639, essv5396535, essv5455567, essv5839333, essv5828518, essv5688344, essv5962413, essv6580122, essv6527340, essv6399837, essv5828882, essv5657081, essv6003779, essv6129679, essv5690682, essv5461218, essv6552190, essv5995581, essv6068901, essv5520315, essv6222902, essv5806664, essv5434932, essv6141513, essv5579462, essv6485185, essv6528285, essv6244149, essv5619615, essv5574722, essv6209882, essv6004568, essv6382062, essv5514927, essv6455712, essv5798840, essv5820492, essv5943232, essv6251055, essv5569973, essv5706507, essv5713406, essv6175328, essv5733429, essv5876278, essv5711386, essv5792634, essv5653260, essv6025525, essv6522993, essv5419813, essv6267430, essv6578276, essv6425715, essv5907628, essv5791333, essv6065541, essv5956356, essv5968715, essv5914659, essv6006726, essv5754794, essv6096875, essv5836900, essv5731827, essv5996709, essv6333253, essv5843206, essv5473704, essv6383873, essv5614745, essv6205554, essv6053041, essv6013548, essv5510033, essv6092469, essv5565898, essv6046912, essv6369523, essv6446194, essv5944423, essv5570683, essv5544752, essv6299375, essv6080152, essv5450841, essv6043675, essv6177502, essv5702379, essv5852447, essv5857591, essv5914072, essv5687857, essv5683069, essv5948169, essv6391174, essv5544621, essv5961742, essv5899577, essv5929420, essv6152468, essv6249090, essv5451987, essv5804814, essv6387568, essv6042352, essv5461494, essv5865707, essv6598307, essv6401084, essv6392847, essv6018988, essv5623709, essv5414677, essv6252888, essv5528362, essv5808370, essv5398579, essv6447519, essv5568172, essv5444929, essv5487408, essv5412993, essv6442107, essv6418392, essv6269965, essv5596494, essv5907673, essv6414435, essv5991177, essv5657231, essv6448928, essv6168858, essv6584340, essv5948185, essv6176672, essv5982252, essv5671279, essv5884148, essv6239916, essv5911006, essv5735033, essv6245592, essv5838109, essv5803368, essv5628379, essv6239714, essv5582095, essv5763839, essv5652394, essv6128969, essv5981810, essv6029859, essv5552718, essv5400326, essv6172900, essv6198711, essv6315301, essv6100852, essv6466046, essv5457249, essv6575518, essv5819456, essv5574075, essv6496255, essv5586297, essv5857983, essv6463743, essv6074736, essv6595117, essv6301416, essv5884098, essv5745845, essv6306108, essv5663888, essv6343251, essv6063570, essv6371443, essv5466732, essv5763620, essv5862889, essv5837670, essv5582096, essv6030809, essv6565950, essv5902326, essv5898800, essv6351444, essv5654871, essv6584676, essv5577059, essv5961679, essv6529433, essv5583877, essv6456370, essv6265895, essv5670229
SamplesNA20588, NA18502, NA18621, NA18947, NA19399, NA11920, HG00257, HG00151, NA18999, HG00233, NA20512, HG00153, NA18504, NA19684, HG01518, HG01461, NA19920, NA12750, NA20806, NA19067, HG00589, NA20798, NA20589, HG01177, NA19678, HG01167, NA20795, NA18558, NA18547, HG01492, NA18916, NA18574, NA07048, NA11918, NA18582, NA20768, HG01083, HG00311, NA20291, NA19079, HG00512, NA20759, NA19720, HG00335, NA20775, HG01519, NA20812, NA18868, NA19238, NA19239, NA18985, NA19985, NA18867, HG01550, NA19789, NA20755, NA19921, NA12777, NA18605, NA20535, HG00731, NA20800, NA18538, NA19070, NA12878, NA20521, HG01095, HG00657, NA19717, NA19663, NA18948, NA12234, NA19064, NA18548, NA18907, NA18537, HG01047, HG00690, HG00404, NA12829, NA11893, NA19750, NA19453, NA18532, NA06989, NA19452, NA18523, HG00463, NA19318, NA12778, NA19625, NA19729, HG00611, NA19652, NA19440, NA18533, NA19256, NA18517, NA19712, NA18564, NA18628, NA20520, NA19470, HG00116, NA18943, NA19360, NA12763, NA18615, NA12347, HG00513, HG00478, NA19785, NA19223, NA19779, HG00267, NA18609, NA19102, NA18873, NA20826, NA18989, NA19129, NA19065, NA18612, NA19429, NA18487, NA18577, NA11832, NA20772, HG00096, HG01060, HG00114, HG01441, NA19648, NA19700, NA18924, NA11995, HG01359, HG01052, NA18980, HG01079, HG00100, NA19704, NA18507, HG01188, NA11933, NA18599, HG01374, NA20813, NA19092, NA19819, NA12058, HG00150, NA20507, NA19190, NA18526, NA12400, NA12413, NA20537, NA19068, HG01250, NA18489, NA19728, HG00702, HG00173, NA19916, HG00330, NA20769, HG00634, NA18942, HG00736, NA19649, NA19197, HG01354, NA20540, NA19313, HG00247, NA19054, NA18498, NA20513, NA19681, NA20336, HG01110, HG00590, NA20541, HG00277, NA19651, HG00120, HG01170, HG00262, NA19719, NA20340, NA19371, NA12889, NA19002, HG00338, NA19451, NA18638, NA12748, HG00464, HG00108, NA20818, NA19007, HG00543, NA19247, HG01360, HG00183, NA20787, NA12342, HG00428, NA19347, NA20809, NA18991, NA19982, HG00500, NA19788, NA18910, NA20770, NA20344, NA19776, NA19655, HG00373, HG01197, NA18499, HG01383, NA12892, NA18853, NA20282, NA19225, HG00141, NA18536, NA20542, NA18576, NA20296, HG00119, NA11881, NA19834, NA19108, NA18950, NA19732, HG01253, NA07051, HG00607, NA19786, HG01108, NA20341, NA19818, NA19078, NA19248, NA19472, NA18987, NA12749, NA19713, NA19726, HG00343, NA18552, HG00372, NA18984, HG00472, NA07056, HG01464, NA19004, NA20322, HG01097, NA18549, HG01191, NA12383, NA19701, NA20761, HG00542, NA12717, NA12842, NA19703, HG01462, NA19909, NA20766, NA12286, NA19066, NA18861, NA18508, NA10851, NA20783, NA18565, HG01066, HG00315, NA20816, NA20802, HG00244, NA19350, NA19355, NA20332, NA18959, HG00737, HG00449, HG00654, NA19443, NA20771, NA12399, NA18602, NA18988, NA18627, NA19107, HG00663, NA07346, NA18563, NA18940, NA18519, NA19319, HG01351, NA20774, NA19062, NA07347, NA19457, NA20287, NA19904, NA19130, NA12275, HG01080, NA20518, NA20278, HG00148, NA19372, NA11994, HG00534, NA19235, HG00160, HG01198, NA18557, HG01048, HG01133, NA20342, NA20127, NA18539, NA20753, NA19908, HG01171, NA19670, HG00245, NA18933, HG00732, HG00275, NA18871, HG01149, HG00740, NA20525, NA19654, HG00324, NA18573, NA19461, NA11919, HG00531, NA20581, NA18912, HG01101, NA18553, NA19099, NA18555, HG00146, NA18963, NA12144, NA19469, NA18570, NA18858, NA12546, HG01075, NA19012, NA18953, NA19375, NA19003, HG00258, NA18632, HG00265, NA19147, NA19747, NA20815, NA19072, HG01551, HG00734, NA20790, NA20527, HG01375, NA19835, HG00473, NA20792, HG00237, NA19679, HG01113, HG01137, NA19783, HG00418, HG01489, HG00339, HG00259, NA19716, NA19093, NA20510, NA20289, NA11843, NA20758, NA19780, NA19900, NA18983, NA20502, NA19316, HG01125, NA12006, NA19463, NA20585, NA19063, NA12154, NA19346, NA19676, NA18620, HG01521, HG01356, NA20543, HG00536, NA11829, HG00361, HG00524, HG00187, HG00318, NA18486, HG01465, HG00103, NA18545, NA20805, NA19777, NA18870, NA12155, HG01140, NA19374, NA19396, NA19005, NA18944, HG01070, NA19382, NA19762, NA19448, HG01488, NA18982, NA19198, NA20317, NA12891, NA12348, NA11992, NA12283, NA19771, NA19138, NA19782, NA18964, NA18611, NA19404, HG01455, HG01067, NA19383, NA18874, NA20819, NA06984, NA18977, NA19917, HG01072, HG00422, NA19317, NA18986, HG01440, NA20811, NA19901, NA19456, NA19445, NA20533, HG00739, HG00264, NA11831, NA10847, HG00133, NA19437, HG01187, NA20505, HG00577, NA18956, HG00320, NA19658, HG01073, NA19449, NA20538, NA18856, NA12249, HG00117, NA12827, NA19257, HG00276, NA20534, NA19675, NA18945, HG01204, NA18546, NA18608, NA20773, NA18542, NA18909, HG00285, NA18961, NA19473, HG00357, NA19435, NA20804, NA19240, NA19773, NA12046, NA19334, NA19467, NA07037, NA06986, HG00111, NA19060, HG01254, HG01055, HG00123, NA19213, NA20528, NA19661, HG01378, NA18488, HG01082, NA18522, HG01112, HG00180, HG01061, NA18562, NA18965
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


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer