A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675336



Internal ID9594755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:69639548..69643554hg38UCSC Ensembl
Outerchr11:69639177..69643924hg38UCSC Ensembl
Innerchr11:69454316..69458322hg19UCSC Ensembl
Outerchr11:69453945..69458692hg19UCSC Ensembl
Cytoband11q13.3
Allele length
AssemblyAllele length
hg384748
hg194748
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5451761, essv6491211, essv6131190, essv6120528, essv5462130, essv6361127, essv5570306, essv6424555, essv6457781, essv5911007, essv6143316, essv6058402, essv6339418, essv5635526, essv5711893, essv5496480, essv6589282, essv5912539, essv6535514, essv5435750, essv5755058, essv6542851, essv6081694, essv6407987, essv6420088, essv5607270, essv6509486, essv5436206, essv6247602, essv5574751, essv5620712, essv6581484, essv6399768, essv6375809, essv5471636, essv5681121, essv6560545, essv6158169, essv6076717, essv5957697, essv6049914, essv5530705, essv6041359, essv6326862, essv5523222, essv5955978, essv5842351, essv6206893, essv6203650, essv5638033, essv6000680, essv6523007, essv5683201, essv5778003, essv5583054, essv5818684, essv5736639, essv6237627, essv5444145, essv5938090, essv6318630, essv5837041, essv6111203, essv6174684, essv6453434, essv6193965, essv5776018, essv6187195, essv6299297, essv5968235, essv6094175, essv5571835, essv5801745, essv6482818, essv6213819, essv5917249, essv6075637, essv5949426, essv6182753, essv5992915, essv6305997, essv6562418, essv6225732, essv6263011, essv6594464, essv6329628, essv6546091, essv5977644, essv6114137, essv5494416, essv6511476, essv5767801, essv5881054, essv6503875, essv5813342, essv5737179, essv5818471, essv6200343, essv5527962, essv5876378, essv6133231, essv5884914, essv6002791, essv5552066, essv6267421, essv6018879, essv5831849, essv6553337, essv6095545, essv6132851, essv5534304, essv6025122, essv6174807, essv6165572, essv5718253, essv5587185, essv5607244, essv6392060, essv6096669, essv5966570, essv6171866, essv5833501, essv5968225, essv5792625, essv6233830, essv6163175, essv5821416, essv5478212, essv5595934, essv6461809, essv5917696, essv6092300, essv5842374, essv6415972, essv6001752, essv6007817, essv5937411, essv6057057, essv5772098, essv6485379, essv5464328, essv5857338, essv6364583, essv6596080, essv6552786, essv6424383, essv6283208, essv5612151, essv5437771, essv6578653, essv6036150, essv6481994, essv5650808, essv5531293, essv6400884, essv6040831, essv6054372, essv6338116, essv6015500, essv5897582, essv5762371, essv5845165, essv6299373, essv6011199, essv5601635, essv6138282, essv6437682, essv5638329, essv6462944, essv5509808, essv6332267, essv5734996, essv5994731, essv6025229, essv5459636, essv6581716, essv5799314, essv5487788, essv5720231, essv5576944, essv5542017, essv6440386, essv5412514, essv5476763, essv5719817, essv6305225, essv6244065, essv5430100, essv5537029, essv5447260, essv5419602, essv5488646, essv6372356, essv5517727, essv6119389, essv5583275, essv6588069, essv5689830, essv6091354, essv5493691, essv6334428, essv5800045, essv6121290, essv6571090, essv5534713, essv6496671, essv6072818, essv5734205, essv5482083, essv5657935, essv6555133, essv6080294, essv6503318, essv5795821, essv6218135, essv5636447, essv5505683, essv5413652, essv6172001, essv6528200, essv6407135, essv6258488, essv6385546, essv6398552, essv5705509, essv5537685, essv5543077, essv6552011, essv5824493, essv6526824, essv5434415, essv6434618, essv6372169, essv6100159, essv5882782, essv5727673, essv6123810, essv5719902, essv5804775, essv6062302, essv5816751, essv5562560, essv5987843, essv6096757, essv5867147, essv5618369, essv6518439, essv6325880
SamplesNA18502, HG00189, NA19058, NA18621, NA18947, NA19066, NA19204, NA18861, NA18565, HG00315, NA18999, HG00181, NA18530, NA18616, NA18633, NA18510, NA19067, NA18602, NA18988, NA18627, HG00337, HG00271, NA19107, NA19171, NA18940, NA18519, HG00272, NA18597, NA18567, NA18558, NA18618, NA19062, NA18916, NA18574, HG00334, NA19130, NA19079, HG00281, HG00335, NA18868, HG00325, NA19235, NA19207, NA18990, NA18557, NA18985, HG00326, HG00323, NA18867, NA18539, NA18538, HG00268, HG00266, HG00282, NA19070, NA19056, NA18933, HG00368, HG00344, NA19081, HG00275, NA18871, NA18572, NA18948, NA18534, NA18981, NA19064, NA18548, NA18907, HG00324, HG00284, NA19084, NA18626, HG00331, NA18912, NA18553, NA19059, NA19009, NA18963, NA18858, NA18541, NA19012, NA18974, NA19003, NA18632, HG00336, NA19256, HG00353, NA18628, NA19072, NA19010, NA19083, NA18615, NA18610, HG00339, NA18501, NA18631, HG00342, NA19093, NA18636, HG00310, NA18873, HG00280, NA19116, NA19080, NA18983, HG00377, HG00274, NA18989, NA19129, HG00171, NA18968, NA18623, NA19063, NA19065, NA18612, NA19074, NA18487, NA18620, NA19055, HG00361, NA18599, HG00306, HG00367, HG00318, NA18486, NA18545, NA19057, NA18596, NA18606, HG00179, HG00177, NA19190, NA18870, HG00327, NA18967, NA19068, NA19076, NA18550, NA18489, NA18595, HG00173, NA19119, NA18982, NA18635, NA18619, HG00330, NA19131, NA18942, HG00346, NA19088, NA19138, NA19054, HG00369, HG00270, NA18498, NA18964, NA18611, HG00277, NA19137, NA18560, NA19075, NA18617, NA18986, NA19087, NA19159, HG00309, HG00182, NA19002, NA19189, NA18520, HG00338, NA18975, HG00178, NA18908, NA18973, NA18638, NA19007, NA18614, HG00313, NA18544, NA19247, NA18613, HG00176, NA19082, NA18934, HG00328, NA19077, NA19152, HG00190, NA18956, NA19236, NA18516, HG00320, NA18637, NA18910, NA18976, NA18630, HG00273, NA19000, HG00373, NA18499, NA18856, HG00321, NA18853, NA19257, HG00276, NA19160, NA18536, NA18634, NA18576, NA18546, NA18909, NA18535, HG00285, NA18952, NA18543, NA18559, HG00366, NA18950, HG00375, HG00357, NA18941, HG00278, NA19144, HG00319, NA19085, HG00269, NA19078, NA19248, NA18971, HG00312, NA19060, HG00329, NA18987, HG00186, NA19213, HG00343, HG00372, NA18984, NA19004, HG00345, NA18522, NA18549, HG00180, NA18622, NA19153, NA18562
Known GenesCCND1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675336
Frequency
Sample Size1151
Observed Gain0
Observed Loss248
Observed Complex0
Frequencyn/a


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