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 Variantsessv6557173, essv6264320, essv6490866, essv5684285, essv6417221, essv6387164, essv6242511, essv6532177, essv5403553, essv5702441, essv5580044, essv6287759, essv5998589, essv6552696, essv6168316, essv6106282, essv6517481, essv5493574, essv5845656, essv5404097, essv5424007, essv5738725, essv6522056, essv6219887, essv6335817, essv5606028, essv6096143, essv6116145, essv6218628, essv6506667, essv6572665, essv6348510, essv5729389, essv5872692, essv5516679, essv5934539, essv6582513, essv5571330, essv5729931, essv6270035, essv6471488, essv6433297, essv5463662, essv5642680, essv5427726, essv5670256, essv6554787, essv5518377, essv5773771, essv6219599, essv6586666, essv5436211, essv5722275, essv6008222, essv6444548, essv5880738, essv6156231, essv6074470, essv5511789, essv6505972, essv6204989, essv6541216, essv5609597, essv6149363, essv5575226, essv6579817, essv5635291, essv6232284, essv6538585, essv5498181, essv5460356, essv6122855, essv6305903, essv6016418, essv6530352, essv6353764, essv5810831, essv6328907, essv5683323, essv6207669, essv5620407, essv5917137, essv6451835, essv5441790, essv5984807, essv6190048, essv5413532, essv6149514, essv6561611, essv5701499, essv6271156, essv6403908, essv6256388, essv6008146, essv5881532, essv6156492, essv6593872, essv5658203, essv5493822, essv5990256, essv6102712, essv6108411, essv5576367, essv5922502, essv5493444, essv6154540, essv6398261, essv5527952, essv5947352, essv6261828, essv5666823, essv6442900, essv6233193, essv5533046, essv5997104, essv5470526, essv5593115, essv5546775, essv5848138, essv6228843, essv5816042, essv5832458, essv5524707, essv5937015, essv6376144, essv6378548, essv5696721, essv5906907, essv5961405, essv5993579, essv5784721, essv6237865, essv5400082, essv6109101, essv6419251, essv5855970, essv6448532, essv5467078, essv6535845, essv5934649, essv5950634, essv6444417, essv5599147, essv6319982, essv5439710, essv6179921, essv5551549, essv5620969, essv5629975, essv5656507, essv5676885, essv5597630, essv5625832, essv6122173, essv6388776, essv5858331, essv5992654, essv5480317, essv5816582, essv5589879, essv5641078, essv6067463, essv6111968, essv5589221, essv5726357, essv5842644, essv6566435, essv5927258, essv6264443, essv5540565, essv6596330, essv6379620, essv5920564, essv6527985, essv5529685, essv5631587, essv6352973, essv6473389, essv5599807, essv5756961, essv6015610, essv6048939, essv6387383, essv6478902, essv6386062, essv6276855, essv6346298, essv6453275, essv6465624, essv5721223, essv5492926, essv6032047, essv5756079, essv6079932, essv6397378, essv5628192, essv5796103, essv5782618, essv5616038, essv6532397, essv6283003, essv5834772, essv6560951, essv5538936, essv5432648, essv5594929, essv6132052, essv6253976, essv6546858, essv6349327, essv5916233, essv5502334, essv6183711, essv6063407, essv6195471, essv6364243, essv5429711, essv5946471, essv6486976, essv5815487, essv5777191, essv6431025, essv5902361, essv5853719, essv6571443, essv5513301, essv6076743, essv5435093, essv5607842, essv6472408, essv6037464, essv6476238, essv6567216, essv5504526, essv5520036, essv6005976, essv5967333, essv6317978, essv5511340, essv5941527, essv6380846, essv5527801, essv5972617, essv5442895, essv5722520, essv5966786, essv6136736, essv6594007, essv6064100, essv5735705, essv5688844, essv5852577, essv6038336, essv6168516, essv6441298, essv6524788, essv5906341, essv6565172, essv5540387, essv5565479, essv5717585, essv6215680, essv6403181, essv6252288, essv6241893, essv6345876, essv5793983, essv6153491, essv5438025, essv6427847, essv5901747, essv6343211, essv5631755, essv5729264, essv5946402, essv6257100, essv6548428, essv6026945, essv6354763, essv6383412, essv6339214, essv6542486, essv5766023, essv5771037, essv5621706, essv6017394, essv6299989, essv6123729, essv5998882, essv6242480, essv5658616, essv5973117, essv6263572, essv5408355, essv5497256, essv6104686, essv6146011, essv5698968, essv5885935, essv5573893, essv6115846, essv6395358, essv5881662, essv6452982, essv6273082, essv6036124, essv6009434, essv6050618, essv6251157, essv5522150, essv6520780, essv6456305, essv5567064, essv5661853, essv6555181, essv5707233, essv5903859, essv5944284, essv5540173, essv6442644, essv5880323, essv6085520, essv5798142, essv6169823, essv5575736, essv5506288, essv5891349, essv6520342, essv5853126, essv6003861, essv5395819, essv5753580, essv6153373, essv5469416, essv5856105, essv5889279, essv6379618, essv5725878, essv6469082, essv6039117, essv5777433, essv5430568, essv6068251, essv5601126, essv6235959, essv6366397, essv5594305, essv6054095, essv5549526, essv6195914, essv6567519, essv6582451, essv5856317, essv6179522, essv6394887, essv5948521, essv5580327, essv5984881, essv5406590, essv5571685, essv6302253, essv5743879, essv6398101, essv6315987, essv5830624, essv5833333, essv6050942, essv6313409, essv6457960, essv5401023, essv5453781, essv6170516, essv6430739, essv6248426, essv5848751, essv6044274, essv6458776, essv5680009, essv6001133, essv6152226, essv6589793, essv5893283, essv5895061, essv6381005, essv5477700, essv5699110, essv6183292, essv5610303, essv5848610, essv6271976, essv5432238, essv5992800, essv5884741, essv6210989, essv6286352, essv6201041, essv5671697, essv5974784, essv6018212, essv6317444, essv6214271, essv5651820, essv6028543, essv6014189, essv6028513, essv5460689, essv5920120, essv5836167, essv5840801, essv6214799, essv6376234, essv6206011, essv5984833, essv5715177, essv5421644, essv5753789, essv5759176, essv6027466, essv5660755, essv5572572, essv5582713, essv5515093, essv6145918, essv6441060, essv5817861, essv6183928, essv6548277, essv5802351, essv6428877, essv6194597, essv6035050, essv6361391, essv5712646, essv6522288, essv5548437, essv6518068
SamplesHG01357, HG00613, NA11881, HG00309, HG00157, NA12489, HG00537, HG00252, HG01440, NA07347, NA20771, HG00182, HG01353, NA18630, NA18871, NA12286, HG00551, NA12342, HG00328, NA18523, NA19114, NA11920, HG00171, HG01083, NA20510, HG00112, HG00274, HG00186, NA12347, HG00131, HG00155, NA19311, NA20531, NA11918, NA19223, HG01079, NA19359, HG01051, HG00189, NA19453, NA20800, HG01082, HG01488, NA12828, HG00428, HG01174, HG00148, HG00139, NA12058, NA20539, HG00111, HG00334, NA19685, NA07051, HG00280, HG01101, HG01134, HG01168, HG00177, NA19701, NA20798, HG00319, HG00737, NA18505, NA20803, HG00156, NA18943, NA19761, HG01171, HG00353, NA18596, NA18949, NA18868, HG00269, HG00554, NA12414, NA19077, HG01107, HG01550, HG00158, HG01148, HG00242, HG01384, HG00421, NA19675, HG00259, NA19197, NA19443, HG00096, HG01048, HG01061, NA20530, HG01183, NA18592, NA19088, NA12273, NA20127, NA12761, NA18956, NA19908, HG00149, HG00338, HG01360, NA11843, NA11831, NA11894, NA12400, HG01253, HG00174, HG00243, HG00276, HG01187, NA12234, NA19700, HG00343, NA12751, NA20769, HG00306, NA19360, NA19725, HG00267, NA19313, NA19380, HG01111, HG01437, NA19786, HG01097, NA07346, NA12716, HG01465, HG00233, NA19372, HG01191, NA19374, HG00640, NA20760, HG00732, NA12778, HG00325, NA12348, NA20790, HG00185, NA19102, HG00263, NA12275, NA19005, HG00176, NA19119, NA19664, HG00265, HG00501, HG01170, HG00249, NA11892, HG01080, HG01351, NA20815, HG00740, NA20797, NA20542, HG00153, HG00329, HG01070, NA20766, HG00246, NA12283, HG01060, NA19382, HG01383, HG00377, NA20813, HG00236, HG01149, HG00120, HG00151, NA11832, NA12891, NA10851, NA12890, NA20525, HG01137, HG00595, NA18552, NA20534, NA12272, NA20756, HG01095, NA18907, NA19723, HG01334, NA12749, NA18867, NA12413, NA20518, HG00138, NA12156, NA12889, NA18560, HG01112, NA19747, NA20287, HG00311, NA18602, NA19755, NA19099, NA20509, HG01390, NA12878, NA19649, NA20507, NA20513, NA11992, NA12003, HG00123, NA19749, HG00281, NA11993, NA12399, NA19399, NA19717, NA19655, HG00142, NA18924, NA19371, NA20543, HG01108, NA18610, NA19470, NA12045, NA11932, NA19756, HG00251, HG00119, HG01498, HG00275, HG00324, NA12717, HG00641, NA18574, HG00183, HG01374, HG01102, NA19381, NA20524, NA20806, HG00684, NA06994, HG00143, NA19448, NA20502, NA20772, NA19092, NA20538, NA19750, HG00271, HG00278, NA19661, NA20519, NA19456, NA19779, HG00136, NA19065, HG00126, NA07000, NA12775, HG01354, HG00312, HG00327, HG00361, HG01198, HG01515, NA12718, NA19445, NA19625, HG01359, NA18861, NA19436, HG00318, NA12750, NA12748, NA11930, NA07037, HG01250, HG00344, HG01072, NA20785, HG01052, HG00100, HG01075, NA20506, NA19404, HG00127, HG01055, HG01342, NA20516, NA19401, NA20508, NA19060, HG00310, HG00261, HG01098, NA06989, NA20802, NA18948, NA12813, HG00117, NA20808, HG01492, NA20529, HG00375, HG00326, HG01491, NA19461, HG00190, HG01182, NA19210, HG00106, NA19834, NA20588, HG01188, NA12776, NA19648, NA11893, HG00331, HG00146, NA18965, NA18488, NA19355, NA12341, NA12044, HG01551, NA19147, HG00188, NA19776, NA20586, HG00247, HG00256, NA18632, NA20770, HG00244, HG00266, NA19762, NA20532, HG00115, HG00154, HG01254, HG00321, NA19914, NA20761, NA19428, NA20585, NA19982, HG00250, HG01140, NA18508, NA20819, NA12282, NA20356, NA20515, HG00583, NA12383, NA18566, HG00337, NA11994, HG00140, HG00638, NA12155, HG00180, NA07357, NA20504, NA20757, NA19722, HG00610, HG00231, HG01047, NA20807, NA19396, NA20754, HG00141, NA19397, HG00330, NA07048, NA19398, NA19440, NA11933, HG00150, NA19774, HG00178, HG00258, NA12829, HG01113, HG01136, NA19835, NA20282, NA20336, NA19773, NA19056, NA19663, NA19679, NA12830, HG00237, NA19684, HG00133, NA18539, NA20773, HG00114, NA12006, NA19676, HG00159, NA19153, HG00124, HG00108, NA12892, NA19703, NA20536, HG01066, NA19375, NA19373, NA20826, HG00559, NA06986, HG01455, HG00260, NA18502, NA20540, HG01073, HG00239, HG00273, HG00282, HG00232, HG01176, NA18942, HG00116, NA20774, NA20828, NA19332
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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