Variant DetailsVariant: esv2657311 | Internal ID | 9576730 | | Landmark | | | Location Information | | | Cytoband | 6p12.3 | | Allele length | | Assembly | Allele length | | hg38 | 6040 | | hg19 | 6040 |
| | Variant Type | CNV deletion | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | | | Supporting Variants | essv5789766, essv6100897, essv6138767, essv5614261, essv6381976, essv5412028, essv6286638, essv5928557, essv5910320, essv6371786, essv6285177, essv5907485, essv6450558, essv6049659, essv6095058, essv5952529, essv6274322, essv5758856, essv5855775, essv6442235, essv5579172, essv6290801, essv5806390, essv5422060, essv5707065, essv5640461, essv5522280, essv6206791, essv6477118, essv6426033, essv6169783, essv5827441, essv6192654, essv6003906, essv5794570, essv5623622, essv5751310, essv5577549, essv5511129, essv5490085, essv6441333, essv5976099, essv5962595, essv6059270, essv5549021, essv6302654, essv6278828, essv5807140, essv5980582, essv5710385, essv6331906, essv5700382, essv6317770, essv6330495, essv5962115, essv5861074, essv5781035, essv5515413, essv5625810, essv5432397, essv6550523, essv6109122, essv6002651, essv6383249, essv5753834, essv5909107, essv5445661, essv5548336, essv5592346, essv5530579, essv6560476, essv6446249, essv5708283, essv6196584, essv5479090, essv5560096, essv6071750, essv5690464, essv6413622, essv5876085, essv6084175, essv6360935, essv6461685, essv5535266, essv5563505, essv6427911, essv6418972, essv5631422, essv6385371, essv6223953, essv6029631, essv6015969, essv5968202, essv5608832, essv5445086, essv6586484, essv6454011, essv6363902, essv6069422, essv5845988, essv5824816, essv5856511, essv6296282, essv6076264, essv5629172, essv5572927, essv6013558, essv6206748, essv5923325, essv5595756, essv6572647, essv6444015, essv6503761, essv6412987, essv5634051, essv5666192, essv6117239, essv5718517, essv5829141, essv5845044, essv5595030, essv5505687, essv5793560, essv5907486, essv6189768, essv6589888, essv5922580, essv5854556, essv5725595, essv5435448, essv5809278, essv6081677, essv6290003, essv6230422, essv5849156, essv5797818, essv5713279, essv5495627, essv6010610, essv5943087, essv6228264, essv6025348, essv5423012, essv6509875, essv6403631, essv6270020, essv6364814, essv6148315, essv5830201, essv5472195, essv5946531, essv5793266, essv5702403, essv6562954, essv6396729, essv6081439, essv6080373, essv6020967, essv6305335, essv5954491, essv5526368, essv5916513, essv5469106, essv6360437, essv5891175, essv5720390, essv5955145, essv6594829, essv5897442, essv5780024, essv6309226, essv6289560, essv5520482, essv5430698, essv6186219, essv6447602, essv5407418, essv6235340, essv5857099, essv5408436, essv6472690, essv6255597, essv6460189, essv6279661, essv6025421, essv5969614, essv6407515, essv5558767, essv6444939, essv6256798, essv5610405, essv6227770, essv6197001, essv6416244, essv6273127, essv6337492, essv6114624, essv6443152, essv6381647, essv5433768, essv6534569, essv6471081, essv6115959, essv5475355, essv5406983, essv5405727, essv5659964, essv5757077, essv6350255, essv5458939, essv5596923, essv6088838, essv5999065, essv5408734, essv6152950, essv6051352, essv5485718, essv6528844, essv6526993, essv5663191, essv5594658, essv5405948, essv6417495, essv6348859, essv6169568, essv5745822, essv5650771, essv6249511, essv6245008, essv6137345, essv5453834, essv6263337, essv6116883, essv6249941, essv6128894, essv5523390, essv6166920, essv5968171, essv5530811, essv6016158, essv6300011, essv6491603, essv6244720, essv5439766, essv6402380, essv5901288, essv6154271, essv5705372, essv5963544, essv5529600, essv5430777, essv6487641, essv6169525, essv5912390, essv6260072, essv6078192, essv6001171, essv6108563, essv5877525, essv5644759, essv6369529, essv6013857, essv5823429, essv5728870, essv6513694, essv6441618, essv5813328, essv5560362, essv5552804, essv5751680, essv5752815, essv5655492, essv5693318, essv5592749, essv6045673, essv5881327, essv6099416, essv5830829, essv6503898, essv6445279, essv6428428, essv5590954, essv6351293, essv5487636, essv6515842, essv5740030, essv5551823, essv6251727, essv5777490, essv5718454, essv6583346, essv6256911, essv6014650, essv5975140, essv6547314, essv6284928, essv5819989, essv6027216, essv6422724, essv5803155, essv5787009, essv5506404, essv5649641, essv5540100, essv6113878, essv6174434, essv6061616, essv6442619, essv6327175, essv5935540, essv5659582, essv5468927, essv6181243, essv6123811, essv5841257, essv5484694, essv5754618, essv5787574, essv6177987, essv5524394, essv6448297, essv5733525, essv5667294, essv5533661, essv6084689, essv6392831, essv5638502, essv5595296, essv6146713, essv5700546, essv5843030, essv5747925, essv5634101, essv6138630, essv6099205, essv5958295, essv6568541, essv6325406, essv6199687, essv5580495, essv5449315, essv6174475, essv5887297, essv6379898, essv5471039, essv6214695, essv6356786, essv6027920, essv5699698, essv5829777, essv6531319, essv5503793, essv6059516, essv6351104, essv6302884, essv5493463, essv6560246, essv6335748, essv6303354, essv5510682, essv5562621, essv6423838, essv5534992, essv6327405, essv5402011, essv6269972, essv6211158, essv5617666, essv6317772, essv5961993, essv6244612, essv6113181, essv6233554, essv6421254, essv6461866, essv5737882, essv5560472, essv5767389, essv6245761, essv5607017, essv5581587, essv6540915, essv5662391, essv6470091, essv5834694, essv5891152, essv5508613, essv6324175, essv5429295, essv5887768, essv6027871, essv5694536, essv6287881, essv5671489, essv5416136, essv5834451, essv5883856, essv5542456, essv6566241, essv6006866, essv5662425, essv6169471, essv5437666, essv6432737, essv5852540, essv5699564, essv6375354, essv6359422, essv6295372, essv6260138, essv6328492, essv5514416, essv6536300, essv6021171, essv5601401, essv5894766, essv5560225, essv5718300, essv5478341, essv5744251, essv5579698, essv5895894, essv6425054, essv5578511, essv5562289, essv6276981, essv5923621, essv5890665, essv6429798, essv6215714, essv5822419, essv6074029, essv6271312, essv6178849, essv6518829, essv5722525, essv5576481, essv5822818, essv6305115, essv6164766, essv5981966, essv5906929, essv5522062, essv5770764, essv5747505, essv6407048, essv5719442 | | Samples | NA19394, HG00189, HG00650, HG00542, HG00442, HG01173, NA19058, HG01462, HG00608, NA19909, NA18621, HG00142, NA19664, HG00671, NA19066, NA18565, HG00257, HG00315, NA18999, NA20294, NA18530, NA18616, HG00449, HG01461, HG00654, NA19443, HG01051, NA19920, NA18633, HG00261, NA19067, NA18602, HG00693, NA18988, NA18627, HG00337, HG00271, HG00663, NA19446, NA18563, HG00589, HG00122, NA18597, NA19678, HG01167, NA18567, NA18558, NA18547, HG01492, NA18618, NA19062, NA18574, NA18582, NA20768, NA19457, NA18571, HG01365, HG00334, HG00537, NA19130, HG00158, HG00512, HG00139, HG01069, NA19720, HG01080, HG00335, HG00325, HG00232, NA19372, HG00534, NA19235, HG00705, HG00160, NA18990, NA18557, NA18985, HG01133, HG00326, HG00323, NA18867, HG00253, NA18539, NA19921, HG01124, HG00137, NA18605, HG00443, NA18538, HG00268, HG00266, HG01171, HG00282, NA19070, HG00557, HG00245, HG00657, NA19455, NA19663, HG00556, HG00583, HG00344, NA19081, HG00263, HG00275, NA18579, NA12718, NA18572, HG01149, NA18534, HG00692, NA19064, NA18548, NA18537, HG01047, NA19654, HG00284, NA19461, HG00651, NA18626, HG00690, HG00404, HG00531, HG00479, HG00684, NA19453, NA18532, NA06989, NA18553, NA19059, HG01334, NA19009, NA18555, HG00152, NA19452, NA18963, HG00704, NA19682, NA18523, HG00463, NA19469, NA18570, NA18593, NA12546, HG01075, NA19012, NA19375, NA19003, NA20799, HG00611, NA18632, NA19652, HG00155, HG00254, NA19390, HG00336, HG00265, NA19434, NA18564, NA18628, NA19072, HG00580, HG00734, NA19444, NA19010, HG01174, HG01375, HG00473, HG00237, NA19679, HG01113, HG00116, NA19083, NA18943, NA19360, HG00662, HG00418, NA18615, NA18610, HG01489, HG01342, NA12347, HG00620, HG00339, HG00614, HG00513, HG00478, NA18631, HG00259, HG00342, NA19716, NA19468, NA19474, NA18636, NA18609, NA18873, HG00280, NA11843, NA19080, NA18983, HG00595, NA18989, NA19316, HG01125, HG00628, NA18624, NA19463, NA18623, NA19063, NA18612, NA19429, NA19346, NA19074, NA18487, HG00553, NA19431, NA18577, NA19676, HG00593, HG00403, HG01060, HG01441, HG00592, HG01356, NA19055, HG00536, HG00249, NA19466, HG00361, NA18592, HG01359, HG00524, HG00187, NA19332, HG01079, NA18561, NA19704, NA18599, HG01389, NA18603, HG00640, HG00367, HG00318, HG00699, NA18545, NA19819, NA19057, NA18596, HG00566, NA18606, HG00179, HG00177, NA18526, HG01140, NA19068, NA19076, NA18550, HG01366, HG00501, NA19448, NA18595, HG01488, HG00702, HG00689, HG00448, HG00173, NA19723, NA18982, NA18635, NA18619, NA19916, HG00330, NA12348, HG00736, HG00610, HG00346, NA19088, HG00247, NA19054, NA19681, HG00590, NA18611, HG01134, NA19651, HG01067, HG00120, NA19383, HG00683, NA18874, NA06984, HG01170, HG00236, NA18977, HG00262, NA19719, HG01072, NA19075, NA18617, HG00422, NA19471, NA18986, NA19087, HG00309, NA19002, HG00427, NA19901, NA18520, HG00637, HG00338, HG00178, NA18908, HG00419, NA19451, NA18638, HG00264, HG00464, HG00260, NA19007, NA18614, HG01353, HG00543, HG00313, HG00133, NA18544, HG00560, NA19247, NA18613, HG00629, NA19657, NA19437, HG00176, NA19082, HG01187, NA19707, HG00596, HG01384, HG00328, NA12342, NA19077, HG00428, NA19462, NA19347, NA20809, HG00653, HG00577, HG00701, NA19391, NA18991, HG00475, NA18516, HG00436, HG00320, HG00584, HG00533, NA18637, HG00500, NA19788, NA18910, NA18630, NA20344, HG00619, NA19776, HG00708, HG00635, HG01390, NA18566, HG01073, HG00273, NA19000, NA19655, HG01197, NA12249, HG00525, HG00321, NA18536, NA18634, NA19675, HG01204, NA18576, NA18546, NA18608, HG00476, HG00124, NA18542, NA18535, HG01190, HG00285, NA19834, NA18961, NA18543, NA18559, HG00565, HG00366, NA18950, HG00136, NA19435, NA18941, HG00278, NA19334, HG00607, NA19439, NA19786, NA19467, HG01108, NA19085, HG00269, HG00125, NA19818, NA19398, NA19078, HG00707, HG00672, HG00578, NA19248, HG00312, NA19438, NA19060, HG00421, HG00329, NA18987, HG00656, NA19713, HG00174, NA20807, HG00698, NA19726, NA19213, HG00343, NA18552, HG00372, HG00252, NA19661, NA18984, HG00472, NA07056, HG01378, NA19004, NA20322, HG00345, HG01097, HG00554, NA18549, HG00180, NA18622, HG01061, HG00437, NA18562 | | Known Genes | PKHD1 | | Method | Merging | | Analysis | No reference, merging analysis | | Platform | Merging | | Comments | | | Reference | 1000_Genomes_Consortium_Phase_1 | | Pubmed ID | 23128226 | | Accession Number(s) | esv2657311
| | Frequency | | Sample Size | 1151 | | Observed Gain | 0 | | Observed Loss | 447 | | Observed Complex | 0 | | Frequency | n/a |
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