A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2671600

Internal ID9591019
Location Information
TypeCoordinatesAssemblyOther Links
chr2:46085557..46085808hg38UCSC Ensembl
chr2:46312696..46312947hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5590583, essv5916174, essv6080411, essv5431986, essv5421893, essv5806700, essv6523275, essv6410085, essv6469202, essv5931951, essv6069613, essv5412019, essv5741815, essv6496130, essv6140504, essv5823904, essv5590042, essv5658767, essv5803371, essv6352830, essv5617389, essv6079195, essv6234592, essv6155762, essv5892799, essv5963706, essv6529643, essv5416045, essv5824789, essv5672407, essv6108578, essv6569835, essv5531438, essv5497085, essv5738110, essv5916163, essv5917942, essv6576174, essv5852509, essv6456958, essv6257269, essv6291798, essv6377394, essv6503933, essv5575055, essv6060416, essv6312667, essv5869712, essv5473127, essv5729213, essv6494165, essv6409015, essv6231284, essv5468479, essv6509106, essv6556325, essv5606865, essv5637090, essv5999647, essv6299153, essv6269869, essv5446663, essv6420718, essv5638557, essv5932978, essv5924528, essv6272989, essv6448613, essv6509686, essv5447627, essv5910573, essv5595157, essv6010151, essv6359725, essv5868481, essv6129231, essv5842304, essv5875068, essv5449613, essv5931799, essv5988811, essv6505326, essv5573477, essv6281767, essv5552198, essv6586840, essv6370403, essv6568579, essv6106716, essv6017374, essv6560006, essv5974813, essv6004485, essv6542839, essv5997364, essv5502328, essv6127406, essv6320552, essv6594330, essv6240057, essv6376042, essv5457043, essv5541412, essv5642971, essv5780071, essv5821896, essv6439451, essv6470086, essv5801141, essv5678503, essv6252490, essv6097557, essv5596955, essv6262622, essv5518956, essv5973970, essv5405242, essv5533225, essv6407482, essv6304933, essv6502151, essv5761643, essv6316632, essv5865648, essv5918510, essv5980343, essv5776830, essv5802764, essv5904137, essv6419089, essv6450728, essv6154099, essv6589735, essv5685646, essv6066962, essv6265972, essv5719667, essv5738454, essv5430654, essv6335148, essv6597618, essv6394563, essv6284432, essv5751171, essv5451229, essv5962835, essv6431539, essv6332015, essv6534618, essv6173183, essv5613367, essv6233328, essv5936435, essv6543233, essv5800137, essv6000559, essv6116870, essv6343986, essv5569508, essv6582037, essv6099769, essv5405782, essv5459698, essv5752974, essv5803329, essv5850519, essv5423350, essv6354740, essv5590397, essv6313750, essv6329087, essv6310094, essv6329487, essv6208495, essv6240949, essv6046378, essv6101314, essv5436167, essv5535680, essv5662217, essv5497207, essv5761531, essv6040342, essv6088134, essv6466220, essv5836879, essv5402836, essv5836409, essv5762436, essv5606189, essv5764009, essv6245538, essv5994525, essv5416977, essv6297724, essv6178263, essv5812315, essv6489053, essv6419094, essv6455484, essv5631985, essv5731816, essv5531875, essv5649672, essv6234684, essv6086726
SamplesHG00613, NA18621, NA19625, HG00537, NA18605, HG00536, NA07347, NA18616, HG00619, NA18530, NA18871, HG01519, HG00127, NA20752, NA18952, HG00705, NA18874, HG00437, NA20516, HG00500, NA18612, HG00464, NA18526, NA19311, HG00449, NA18550, HG00707, NA20294, NA20759, HG00463, HG00189, NA18953, NA18972, HG00428, HG00475, NA18947, HG00542, NA19449, HG00326, NA18608, NA19782, HG00553, NA18546, NA19210, HG00701, HG00334, HG01204, NA19685, HG00404, NA19004, HG00557, NA19257, HG00331, NA18965, NA18488, NA19084, HG00699, NA19780, NA18557, HG01171, HG00479, NA18596, NA18628, HG00342, HG00543, NA18559, NA19463, HG00556, NA19067, NA11919, NA18912, NA19085, NA19054, NA19239, HG00472, HG00583, NA12004, HG00337, NA18635, NA19057, NA19917, NA18536, NA18576, NA18622, NA18960, NA18623, NA19471, HG01048, NA20530, HG00692, HG01183, HG00689, NA19396, NA18592, NA18856, HG00628, NA19397, NA20127, NA18638, NA18956, NA19398, NA19908, NA19066, HG00338, NA18959, NA18609, NA19774, HG00125, HG00258, NA11894, NA18637, NA18593, HG00254, HG01187, HG00662, NA19377, NA12046, HG00108, HG00233, HG01516, HG00653, NA18572, HG00268, NA19384, HG00629, NA18986, HG00263, NA19005, NA18510, HG00260, NA19657, NA18977, NA18941, HG00672, HG00273, HG01356, NA18504, HG00478, NA18487, NA18858, NA18961, HG00116, NA19332, HG00740, NA18613, HG00513, NA18988, HG00525, NA18562, NA19074, NA18985, HG00589, NA18945, NA18606, NA18543, NA19235, NA18582, HG00427, NA18597, NA20756, HG00443, NA18567, NA19078, NA19403, NA12413, HG00663, NA12156, NA19116, NA18560, NA18544, NA18971, HG00448, NA19818, HG00608, NA18577, NA19099, HG00654, HG00530, NA18548, NA18944, NA19063, NA19717, HG00656, NA18571, HG00422, HG01108, NA18610, NA19470, NA12045, HG00693, NA18532, NA18549, NA18574, HG00442, HG00473, NA18981, NA20524, HG00684, HG00143, NA19087, NA19468, HG00702, HG00136, NA19746, NA18980, HG01354
Known GenesPRKCE
AnalysisNo reference, merging analysis
Pubmed ID23128226
Accession Number(s)esv2671600
Sample Size1151
Observed Gain0
Observed Loss206
Observed Complex0

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