A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664845



Internal ID9584264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:51871311..51872006hg38UCSC Ensembl
chr6:51736109..51736804hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg38696
hg19696
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6582513, essv5902361, essv6016418, essv5540387, essv5660755, essv6518068, essv6219887, essv5641078, essv5722520, essv5661853, essv6433297, essv5998589, essv5432238, essv6064100, essv5948521, essv5527801, essv6379618, essv6469082, essv5729389, essv6394887, essv6361391, essv5609597, essv5658616, essv6319982, essv6486976, essv6085520, essv6195914, essv5944284, essv6376234, essv6346298, essv5666823, essv6219599, essv5771037, essv6517481, essv6149514, essv5901747, essv5441790, essv5580327, essv6183292, essv5469416, essv6218628, essv6403908, essv5460689, essv5972617, essv5589221, essv6153373, essv6001133, essv6349327, essv6444417, essv6154540, essv5726357, essv6478902, essv6348510, essv6419251, essv6428877, essv6542486, essv5573893, essv5408355, essv6008222, essv5589879, essv5832458, essv6554787, essv6076743, essv6398101, essv5688844, essv6524788, essv6210989, essv6108411, essv6241893, essv6005976, essv6538585, essv5549526, essv5782618, essv5773771, essv5575736, essv5696721, essv5601126, essv6472408, essv5903859, essv5580044, essv6530352, essv6442900, essv5937015, essv6555181, essv5848751, essv5712646, essv5522150, essv5567064, essv6237865, essv5993579, essv6050618, essv5858331, essv6026945, essv5670256, essv6145918, essv5529685, essv6532397, essv5702441, essv5548437, essv6014189, essv5990256, essv5961405, essv6283003, essv6111968, essv6054095, essv5533046, essv6232284, essv5833333, essv5470526, essv6270035, essv6206011, essv5947352, essv6183711, essv6018212, essv6557173, essv6228843, essv5885935, essv6430739, essv5802351, essv6458776, essv5442895, essv6522288, essv5593115, essv5493444, essv5403553, essv5722275, essv5599147, essv5594305, essv6233193, essv5498181, essv5992800, essv6403181, essv6104686, essv5406590, essv5401023, essv6235959, essv6195471, essv5729931, essv5699110, essv5576367, essv5796103, essv5429711, essv5798142, essv6003861, essv6169823, essv5427726, essv6194597, essv5571330, essv5516679, essv5504526, essv6248426, essv5906341, essv6027466, essv6427847, essv5520036, essv6561611, essv6397378, essv6273082, essv5784721, essv5743879, essv6451835, essv5684285, essv5810831, essv5527952, essv5463662, essv6379620, essv5941527, essv5916233, essv5721223, essv5620407, essv5998882, essv6506667, essv6136736, essv5515093, essv6441060, essv6271156, essv5435093, essv5891349, essv5436211, essv5834772, essv6386062, essv5575226, essv5404097, essv5753789, essv6548277, essv6444548, essv6335817, essv6276855, essv5725878, essv5438025, essv5984807, essv5895061, essv6352973, essv6552696, essv5816582, essv5738725, essv6522056, essv6376144, essv5753580, essv5631755, essv6448532, essv6256388, essv5400082, essv5934649, essv5518377, essv5413532, essv5565479, essv6586666, essv6532177, essv5506288, essv5460356, essv6505972, essv6168516, essv5513301, essv5701499, essv6456305, essv5642680, essv5656507, essv5777433, essv6317978, essv5658203, essv5524707, essv5546775, essv6579817, essv5893283, essv5676885, essv6473389, essv6287759, essv6102712, essv5845656, essv5881532, essv5729264, essv5715177, essv6520780, essv5597630, essv5934539, essv6116145, essv6204989, essv6015610, essv5594929, essv5511340, essv5974784, essv5856105, essv6328907, essv6541216, essv5922502, essv6490866, essv5992654, essv5950634, essv5628192, essv5610303, essv6207669, essv5927258, essv5616038, essv6520342, essv6471488, essv5492926, essv5906907, essv6063407, essv6179921, essv5984881, essv5424007, essv6146011, essv6315987, essv6302253, essv5816042, essv5540565, essv5698968, essv6263572, essv6068251, essv5571685, essv6343211, essv6546858, essv5538936, essv6345876, essv6596330, essv6251157, essv6152226, essv5477700, essv6179522, essv6589793, essv5852577, essv5815487, essv6271976, essv6572665, essv6364243, essv6383412, essv5966786, essv6170516, essv5853126, essv6017394, essv6441298, essv6122173, essv5967333, essv5872692, essv6431025, essv6009434, essv5707233, essv5836167, essv5766023, essv5920120, essv5480317, essv6067463, essv5889279, essv6048939, essv5551549, essv5884741, essv5848610, essv6398261, essv6339214, essv6366397, essv5848138, essv5430568, essv5511789, essv5502334, essv5493822, essv5439710, essv6388776, essv6261828, essv5671697, essv5467078, essv6039117, essv5842644, essv5756961, essv6264443, essv6190048, essv6036124, essv6353764, essv6381005, essv6123729, essv5606028, essv5984833, essv5853719, essv5759176, essv5631587, essv6387383, essv6457960, essv6153491, essv6313409, essv5493574, essv5756079, essv6037464, essv6028513, essv5680009, essv6044274, essv5629975, essv5973117, essv6242511, essv6122855, essv5777191, essv6201041, essv5651820, essv6286352, essv6032047, essv6453275, essv6567519, essv5946471, essv6106282, essv6566435, essv6253976, essv6035050, essv5572572, essv6452982, essv6183928, essv6096143, essv6242480, essv6354763, essv6156231, essv6560951, essv5432648, essv6109101, essv6548428, essv6395358, essv5683323, essv5453781, essv6594007, essv6299989, essv6008146, essv5855970, essv6593872, essv5497256, essv6387164, essv6535845, essv6582451, essv5997104, essv6317444, essv5717585, essv6417221, essv5917137, essv6527985, essv5735705, essv5599807, essv6264320, essv6378548, essv5620969, essv5880738, essv6252288, essv6156492, essv6214271, essv5830624, essv5817861, essv5881662, essv6149363, essv5793983, essv5635291, essv6214799, essv6038336, essv6132052, essv6079932, essv6465624, essv5607842, essv6565172, essv5920564, essv6442644, essv6115846, essv5840801, essv6305903, essv5395819, essv6028543, essv6050942, essv6168316, essv6074470, essv5946402, essv6215680, essv5582713, essv5540173, essv6567216, essv5625832, essv5421644, essv6476238, essv6257100, essv5880323, essv6571443, essv6380846, essv5856317, essv5621706
SamplesHG00343, NA18552, HG00252, NA19661, NA18505, NA19755, NA18488, HG01082, NA07000, HG01112, HG01097, HG00554, HG01191, HG00180, HG01061, NA19153, NA12776, NA18965, NA20509, NA20588, NA12383, NA18502, HG00189, NA19701, NA20761, NA12717, NA20529, HG00143, NA19703, HG00142, NA20766, NA12286, NA20508, NA19664, HG00242, NA18861, NA18508, NA10851, HG00559, NA19399, NA12273, NA12414, NA11920, HG01066, HG00151, HG00233, NA20802, HG00244, NA19359, NA12751, HG00153, NA19355, NA19684, HG00737, HG00115, NA19443, HG01051, NA20356, HG00261, NA20771, NA12750, NA12399, NA20806, NA18602, HG00337, HG00271, NA12813, NA07346, HG00641, HG00138, NA19373, NA20798, HG01351, NA20774, HG01168, NA20756, HG01492, NA18574, NA07048, NA11918, NA07347, HG01083, HG00334, NA20287, HG00185, HG00537, HG00311, HG00243, NA18949, HG00158, NA11930, HG00281, HG00139, NA20539, NA12275, HG01080, NA20518, HG00148, NA12156, HG00156, NA18868, HG00325, NA11932, HG00232, NA19372, NA12044, NA11994, NA19722, HG01198, HG01048, HG00326, NA20757, NA20127, NA18867, HG01550, NA20515, NA18539, HG00154, NA19908, NA12489, NA20800, HG00266, HG01171, HG00282, NA19056, NA12878, HG00732, HG01095, NA20760, NA19717, NA19663, HG00583, HG00344, HG01498, HG00263, HG00275, NA12718, NA20519, NA18871, HG01149, NA18948, HG00551, HG00239, NA12234, HG00740, NA18907, HG01047, NA20525, HG01102, HG00324, NA19461, HG00250, NA12829, NA11893, HG00331, HG00684, NA19750, NA19453, NA06989, HG01101, HG00140, NA19099, HG01334, NA19761, HG00146, NA18523, NA12778, HG00246, HG00126, NA19625, HG01107, HG01075, HG01148, NA19375, HG00258, NA18632, HG00155, NA19440, HG00265, NA19147, NA19747, HG00353, NA20815, NA12272, HG01551, HG01357, HG01174, NA20790, NA20530, NA19835, HG00237, NA19679, NA19470, NA19428, NA19311, HG01113, HG01137, HG00116, NA18943, NA19360, NA18610, HG01342, NA12347, NA06994, HG00259, NA19223, NA19779, HG00267, NA20510, HG00310, NA19102, HG00112, HG00280, NA11843, NA20826, HG00377, HG00274, HG00595, NA20502, NA11892, HG01111, HG00171, NA12890, NA12006, NA20585, NA19065, NA20754, HG01437, NA11832, NA20772, NA19676, HG00096, HG01060, HG00114, NA19648, NA19700, HG01098, NA20543, HG00231, NA19397, NA18924, HG00249, HG00361, NA18592, HG01359, NA19914, HG01052, NA19332, HG01079, HG00100, HG01188, NA20531, NA11933, HG01374, HG00306, NA20813, NA20532, NA12045, HG00640, HG00318, NA19092, HG01465, NA18596, NA12058, NA20808, HG00177, HG00150, NA20507, NA12400, NA12155, NA07357, HG01140, NA12413, NA12341, HG00327, NA19374, HG01250, NA19396, HG00127, NA19381, NA19005, HG01070, HG00251, HG00501, NA19382, NA19762, NA19448, HG01488, NA20586, NA19723, NA19119, NA12891, HG00330, NA20769, NA12348, NA18942, HG00610, NA19649, NA11992, NA19197, NA12283, HG01354, NA20540, NA19313, NA19088, HG00247, NA20513, NA20336, NA19404, NA12761, HG01134, NA12282, HG01455, HG00120, HG00106, NA20819, HG01170, HG00236, HG01072, NA19371, NA18560, HG01176, NA12889, HG01440, HG00309, HG00182, NA19725, HG00338, HG00159, NA12828, NA19456, NA19445, HG00178, NA12748, NA11993, HG00108, HG00260, NA11831, HG01353, HG00133, HG01183, HG01136, HG00188, HG00149, NA19210, HG01360, HG00183, HG00176, HG01187, NA20524, HG01384, HG00328, NA12342, NA19077, NA12003, HG00428, HG00190, NA18956, HG01515, NA20536, NA19982, NA20506, NA20770, NA18630, NA19776, HG01390, NA18566, HG01073, HG00273, NA19114, NA19774, NA19655, NA11894, NA20538, HG01383, NA12892, HG01182, HG00117, HG00613, HG00321, HG00157, NA20282, HG00276, NA20828, NA19756, HG00141, NA20542, NA20534, NA19675, NA19436, NA19685, NA19401, HG00124, NA20773, NA12716, HG00119, NA11881, NA19834, NA12775, NA19749, HG00375, HG01253, HG00136, HG00638, HG00278, NA19773, NA19380, NA07051, NA20785, NA20504, NA19786, HG00319, NA20516, HG01108, NA20803, NA20797, NA07037, HG00256, NA06986, HG00269, NA19398, HG00111, HG01491, HG00312, NA19060, HG00421, HG00329, NA12749, HG01254, HG01055, HG00174, HG00123, NA12830, HG00186, NA20807, HG00131
Known GenesPKHD1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664845
Frequency
Sample Size1151
Observed Gain0
Observed Loss436
Observed Complex0
Frequencyn/a


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