A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657311



Internal ID9576730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:51874769..51880808hg38UCSC Ensembl
chr6:51739567..51745606hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg386040
hg196040
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5897442, essv5751310, essv6027920, essv6051352, essv5797818, essv6330495, essv5490085, essv5576481, essv5856511, essv5722525, essv5907486, essv6088838, essv5720390, essv6360935, essv6586484, essv5975140, essv5700546, essv5968171, essv5595030, essv6049659, essv6572647, essv6417495, essv5667294, essv5813328, essv6113878, essv6025421, essv5522062, essv5961993, essv5439766, essv5610405, essv6335748, essv5581587, essv5594658, essv6114624, essv6244612, essv6560476, essv5449315, essv5560472, essv5718454, essv6392831, essv5469106, essv5523390, essv6249511, essv6396729, essv6441333, essv5408734, essv5887297, essv5954491, essv6369529, essv5422060, essv5935540, essv5999065, essv6059516, essv6178849, essv6359422, essv6164766, essv6276981, essv6152950, essv5754618, essv6169783, essv5432397, essv5580495, essv5649641, essv5830201, essv5922580, essv6528844, essv5707065, essv5969614, essv6269972, essv6470091, essv6081439, essv5693318, essv5562289, essv5631422, essv5767389, essv5901288, essv6331906, essv5906929, essv6001171, essv6074029, essv6081677, essv6515842, essv6300011, essv5883856, essv5834451, essv5453834, essv5845044, essv5607017, essv6305335, essv5907485, essv6020967, essv6255597, essv6327175, essv6071750, essv6199687, essv6383249, essv5659964, essv5718300, essv6477118, essv6350255, essv6594829, essv5430698, essv5789766, essv5752815, essv5928557, essv6174475, essv6186219, essv6309226, essv6450558, essv5852540, essv5891152, essv6027216, essv5841257, essv5560362, essv6302884, essv5429295, essv6348859, essv5406983, essv5534992, essv5854556, essv6583346, essv5484694, essv6045673, essv5526368, essv5655492, essv6279661, essv5471039, essv5751680, essv6441618, essv5843030, essv6289560, essv6547314, essv5943087, essv5506404, essv6351104, essv5640461, essv5535266, essv5980582, essv6442619, essv5757077, essv6169471, essv5968202, essv6100897, essv6471081, essv5458939, essv5408436, essv5548336, essv5405727, essv6223953, essv5793560, essv5981966, essv6069422, essv6192654, essv5855775, essv6244720, essv6427911, essv6260138, essv5520482, essv6442235, essv6364814, essv5595296, essv6461866, essv5601401, essv6503761, essv5699564, essv6445279, essv5562621, essv6487641, essv6560246, essv5733525, essv5629172, essv5891175, essv6206791, essv6166920, essv6562954, essv5563505, essv5910320, essv6095058, essv5430777, essv5437666, essv5700382, essv5807140, essv5625810, essv5744251, essv5803155, essv5829777, essv5753834, essv5849156, essv5719442, essv6099205, essv5614261, essv5416136, essv5845988, essv6215714, essv5522280, essv5725595, essv6061616, essv5551823, essv5638502, essv5819989, essv6013558, essv6181243, essv5962115, essv6027871, essv5650771, essv5857099, essv6108563, essv5530579, essv5445661, essv5560096, essv5793266, essv5909107, essv6360437, essv5405948, essv6423838, essv5958295, essv6013857, essv5663191, essv5823429, essv6227770, essv5524394, essv5558767, essv6015969, essv6295372, essv6006866, essv6206748, essv6327405, essv5503793, essv5508613, essv5578511, essv6148315, essv6196584, essv6273127, essv5662391, essv6084689, essv5794570, essv6021171, essv6454011, essv6003906, essv5671489, essv6403631, essv6137345, essv5577549, essv6290003, essv6432737, essv6416244, essv6518829, essv5787574, essv5822419, essv6109122, essv6337492, essv5644759, essv6084175, essv6317770, essv6425054, essv5747925, essv5787009, essv5895894, essv5479090, essv5955145, essv6138630, essv5540100, essv6123811, essv5708283, essv6375354, essv6270020, essv6412987, essv6472690, essv5659582, essv6146713, essv6278828, essv5572927, essv6407048, essv6589888, essv5530811, essv6230422, essv5777490, essv5829141, essv6214695, essv5861074, essv5962595, essv6287881, essv5515413, essv6491603, essv5412028, essv5946531, essv6113181, essv5728870, essv6536300, essv5487636, essv5662425, essv6235340, essv5592749, essv6385371, essv5830829, essv6228264, essv6443152, essv5475355, essv5592346, essv6285177, essv6534569, essv5963544, essv5402011, essv5552804, essv5737882, essv6460189, essv5478341, essv5745822, essv6010610, essv5976099, essv6381647, essv5740030, essv5916513, essv6256911, essv6305115, essv5472195, essv6169568, essv6169525, essv6324175, essv5510682, essv6446249, essv5595756, essv6371786, essv5435448, essv5666192, essv6025348, essv6263337, essv5579698, essv5923325, essv6351293, essv6245008, essv6016158, essv5617666, essv6509875, essv6174434, essv6211158, essv5690464, essv5806390, essv6418972, essv5549021, essv6303354, essv5702403, essv6251727, essv6421254, essv6317772, essv5713279, essv6363902, essv6138767, essv6381976, essv6286638, essv6407515, essv5579172, essv5634101, essv6076264, essv6099416, essv6029631, essv6249941, essv6128894, essv6444015, essv6531319, essv5705372, essv6550523, essv5485718, essv5433768, essv5623622, essv6302654, essv6328492, essv5824816, essv6461685, essv5718517, essv6189768, essv6568541, essv5493463, essv5511129, essv6078192, essv6260072, essv5634051, essv5881327, essv6197001, essv6080373, essv5590954, essv5877525, essv5827441, essv5514416, essv6448297, essv6540915, essv6447602, essv6002651, essv6233554, essv6290801, essv5894766, essv6379898, essv6059270, essv5529600, essv5890665, essv5876085, essv6274322, essv6296282, essv6526993, essv5542456, essv5468927, essv6117239, essv6284928, essv5694536, essv6356786, essv6513694, essv5699698, essv5923621, essv6402380, essv6503898, essv5780024, essv5912390, essv6413622, essv5834694, essv5560225, essv5887768, essv6426033, essv6429798, essv6177987, essv6245761, essv5758856, essv6256798, essv6422724, essv5770764, essv5809278, essv6271312, essv5608832, essv6325406, essv5423012, essv6116883, essv5596923, essv5407418, essv5445086, essv5533661, essv6154271, essv5781035, essv5822818, essv6444939, essv6014650, essv5505687, essv6428428, essv6115959, essv5495627, essv5710385, essv5952529, essv6566241, essv5747505
SamplesHG01441, NA19012, NA18621, HG00309, NA19248, HG00537, HG00252, NA18605, HG00257, NA18520, NA18595, NA18616, HG00619, NA18534, HG01353, NA18530, NA18535, NA18630, HG00418, NA19081, NA19819, NA12342, HG00328, NA18523, NA19437, HG00705, HG00437, HG00500, HG01173, HG00464, NA12347, HG00565, NA18526, HG00155, HG00160, NA19469, NA19435, HG01079, NA18545, NA18603, HG01389, HG00463, HG01197, HG00657, NA18516, HG00614, HG01051, HG01365, NA19334, HG00189, HG00577, NA19788, NA19453, HG01488, HG00428, HG00475, HG00542, HG01174, NA19920, HG00139, NA18546, HG01167, HG00683, HG00698, HG00334, NA18963, HG00187, HG00404, NA19651, HG00280, HG00335, HG01134, NA19682, HG00177, HG00253, HG00699, NA20322, NA18557, NA18943, NA18950, HG01171, NA18596, NA18628, HG00269, HG00554, HG00592, NA19077, NA19062, NA19463, HG00158, HG00556, NA19085, HG00346, HG01384, NA18627, NA19076, HG00593, HG01375, NA19390, HG00421, HG01378, NA18635, NA18536, NA19675, NA18622, HG00259, NA19443, NA18623, NA19471, NA19444, HG01061, NA18617, NA18990, HG00692, NA18636, HG01124, NA18592, NA19083, NA19088, HG00315, NA19429, HG00338, HG00533, NA18609, HG00125, NA11843, NA18637, NA19075, HG00174, NA18593, HG00284, HG01187, NA19457, HG00343, NA19082, HG00662, NA19000, NA19055, NA19247, NA19360, NA19786, NA19080, HG01097, NA19372, NA18633, HG00653, HG00640, HG00325, NA12348, NA19716, NA18986, HG00263, HG00176, NA19002, NA19664, HG00265, HG00501, HG00672, HG01170, HG01069, HG00249, NA18961, HG01080, HG00524, NA19720, HG00534, HG00525, NA18910, HG00236, HG00120, NA19235, NA18619, NA18987, NA18582, NA18999, HG00427, NA18597, NA19921, HG00590, HG00595, HG01190, NA18552, NA18983, HG00443, NA18599, NA18567, NA19391, NA19723, NA19078, HG00611, HG01334, NA20799, HG00650, NA06984, NA18538, NA18867, NA19394, NA18565, NA19009, HG00663, HG00262, NA18631, NA19431, NA18989, HG00580, NA19719, NA18544, NA19434, HG00448, NA18602, NA19818, HG00608, NA18577, NA19446, HG00654, HG01390, NA18614, NA19452, NA18548, NA19064, HG00285, NA19063, HG00656, NA12546, NA19655, HG00142, HG01366, NA18571, HG00422, HG00708, NA19916, HG01108, NA18610, NA19070, HG00367, NA18984, HG00693, NA18611, HG00566, HG01125, NA19130, NA19346, NA20768, HG00320, HG00275, HG00690, NA18532, NA18549, NA18574, HG00442, HG00473, HG00137, HG01462, HG01489, NA18908, HG00684, NA18615, HG00336, HG00476, NA19448, HG00671, NA19087, HG00345, NA19468, HG00702, HG00704, NA18555, HG00271, HG00278, NA19007, NA19661, HG00136, NA19058, NA19466, HG00531, HG01067, NA18553, NA19439, HG00312, HG00361, HG00323, NA12718, HG00313, HG00152, HG00734, HG01359, NA12249, HG00318, HG00536, HG00607, NA20809, HG00344, HG01072, HG01075, NA18561, NA07056, NA18874, HG01342, NA18612, HG00245, HG00596, HG00736, HG00449, NA19060, NA18550, NA18570, NA19003, NA19072, HG00261, HG00707, NA19455, NA06989, NA20294, HG01492, NA19451, NA19010, HG00173, HG00326, NA18608, NA18542, HG00553, NA19461, HG00122, HG00701, NA19834, HG01204, HG01461, HG00651, NA19004, NA19678, HG00557, HG00366, HG00578, NA19474, NA19467, NA18873, NA18626, NA19776, HG00479, NA19438, NA19654, HG00247, HG01133, NA18632, HG00342, HG00266, HG00635, HG00543, NA18559, HG00321, HG00339, NA19726, NA19067, NA19383, NA18624, HG00179, HG01140, NA19054, NA19059, HG00472, NA19652, HG00583, NA18566, HG00337, NA19057, NA19068, NA18576, HG00180, NA18563, NA18618, HG00610, HG00372, NA18991, HG01047, NA20807, HG00689, HG00628, HG00330, NA18638, NA19398, NA19066, HG00178, HG00419, NA18547, HG01113, HG00264, HG00637, NA18982, NA19681, HG00254, NA19663, NA19679, HG00403, NA18634, HG00237, HG00584, NA19316, HG00133, NA18539, NA19213, NA19676, HG00436, HG00620, HG00124, NA18537, NA18572, HG00268, NA19375, HG00629, NA20344, HG00260, NA19657, HG00560, NA19713, HG01073, NA18558, NA18977, NA18941, NA19901, HG00273, HG00282, HG00232, HG01356, NA19704, HG00478, NA18487, NA18564, HG00116, NA19347, NA19332, NA19909, NA18613, HG00513, NA18988, HG00329, HG00512, NA19707, NA18562, NA19074, HG01060, NA18579, NA18985, NA19462, HG00589, HG01149, NA18606, NA18543
Known GenesPKHD1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657311
Frequency
Sample Size1151
Observed Gain0
Observed Loss447
Observed Complex0
Frequencyn/a


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