Variant DetailsVariant: esv2658506 | Internal ID | 9924611 | | Landmark | | | Location Information | | | Cytoband | 4q13.2 | | Allele length | | Assembly | Allele length | | hg38 | 5345 | | hg19 | 5345 |
| | Variant Type | CNV deletion | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | | | Supporting Variants | essv5926965, essv6276865, essv6107178, essv6403509, essv5839801, essv5534201, essv6421965, essv6016222, essv6382780, essv6360294, essv6072338, essv6348481, essv5543212, essv6391662, essv5642899, essv5621736, essv5924697, essv5693693, essv5651346, essv6198437, essv5575355, essv5633289, essv6174583, essv5962833, essv5870764, essv6093102, essv5753119, essv6232240, essv5829207, essv5556578, essv6103630, essv6388896, essv6598183, essv6083135, essv5408380, essv6589250, essv6379776, essv5923126, essv5413929, essv6229428, essv5859180, essv5914149, essv5588458, essv6538915, essv6072207, essv5923600, essv6234568, essv6465046, essv6333743, essv6510990, essv6313714, essv6270433, essv5779127, essv6458593, essv5779464, essv6238808, essv6218791, essv5615043, essv6534458, essv5452313, essv5718934, essv5548570, essv6318208, essv5571075, essv6575858, essv6518875, essv5938002, essv6248977, essv6048786, essv5607798, essv6519587, essv5721154, essv5897229, essv6041143, essv5975887, essv6329366, essv5976696, essv6165132, essv6455271, essv6186200, essv5695580, essv5486160, essv6041000, essv6474359, essv5750920, essv6246967, essv5484455, essv6445445, essv5589849, essv6193510, essv5823901, essv5619094, essv5562702, essv5683115, essv5750413, essv5421215, essv5667547, essv6093312, essv6596489, essv6488330, essv5497094, essv6090089, essv6162283, essv5639985, essv5970967, essv5854918, essv6137357, essv6087387, essv5550862, essv5712135, essv5572157, essv5668832, essv6553961, essv5609412, essv6167762, essv5994067, essv6448708, essv6152278, essv5860244, essv6304373, essv5661366, essv6266709, essv6196990, essv6063853, essv6035826, essv5864044, essv5527658, essv5787695, essv6569758, essv6303885, essv5848980, essv5773848, essv5723031, essv6594972, essv6582631, essv6532945, essv5970147, essv5743959, essv5636321, essv5633076, essv5819447, essv6339676, essv6191745, essv6163317, essv6120006, essv5764162, essv6075585, essv6293163, essv5732559, essv5855297, essv6596566, essv6316828, essv6377136, essv6256318, essv6473777, essv6447209, essv6394250, essv6463900, essv5485133, essv5938998, essv5788757, essv6540218, essv6294820, essv6119720, essv5728362, essv5651783, essv6463093, essv5708390, essv5948111, essv6294009, essv6164987, essv5498383, essv5465682, essv6157924, essv6090009, essv6077661, essv5706602, essv6229195, essv5991037, essv5830352, essv6164057, essv6209547, essv6543534, essv6075664, essv6486280 | | Samples | NA19394, HG01060, HG00189, HG00650, HG00442, HG00592, HG00231, NA19397, NA18924, HG01462, NA19909, NA19664, HG01052, HG01079, NA19704, NA20752, NA20512, HG00640, NA19350, NA19092, HG01465, NA20294, NA19684, NA12058, HG00115, HG00449, HG00150, NA19443, NA12400, NA20356, NA19920, NA12155, NA19067, NA19068, NA19396, NA19379, HG01070, HG00589, HG00272, NA19319, NA19382, NA20798, NA19448, HG00173, NA18567, NA20317, HG01492, HG00634, NA18618, NA07347, NA20768, NA19313, NA19782, HG00185, NA18964, HG00243, NA19130, NA19079, NA19404, HG00281, NA12282, HG01067, NA19383, HG00335, NA06984, HG01170, NA18868, HG00262, NA19917, NA19372, NA19371, HG00534, NA19075, NA18617, NA19385, NA19471, NA18986, NA18990, NA19445, NA11831, NA12777, HG00149, NA19908, NA19247, NA19657, HG00266, HG00183, HG00282, NA18934, HG00245, NA12342, HG00428, NA19347, HG00732, HG01095, HG00701, NA20810, NA19391, NA19327, NA19455, HG00584, NA19081, HG00500, HG00551, HG00708, HG01047, HG00651, NA19449, HG00404, HG00531, NA20581, HG01197, HG01383, HG00140, NA18553, HG01497, NA19338, NA19009, HG00146, NA19756, NA19469, NA19318, NA19625, NA18634, HG01148, HG00124, HG00155, NA12716, HG00336, HG00265, NA19834, NA19321, NA19473, NA19072, NA18950, HG00375, NA19331, HG00278, NA19380, NA07051, NA20785, NA12046, HG01357, HG01375, NA19679, NA19470, NA19324, NA19311, HG00116, HG01108, NA20281, NA19360, NA18615, HG01489, HG01342, HG00269, NA19398, HG00707, HG00614, HG01491, NA19472, NA19779, HG00267, NA19713, NA20510, NA20289, HG00310, HG00186, NA19102, NA18873, NA19900, HG00595, NA07056, NA18989, NA19312, HG00628, HG00171, HG01112, HG00554, NA19429, NA18487, HG00553, HG00581, NA19676, HG01516 | | Known Genes | UGT2A1, UGT2A2 | | Method | Merging | | Analysis | No reference, merging analysis | | Platform | Merging | | Comments | High quality site | | Reference | 1000_Genomes_Consortium_Phase_1 | | Pubmed ID | 23128226 | | Accession Number(s) | esv2658506
| | Frequency | | Sample Size | 1151 | | Observed Gain | 0 | | Observed Loss | 185 | | Observed Complex | 0 | | Frequency | n/a |
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