A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671600



Internal ID9591019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:46085557..46085808hg38UCSC Ensembl
chr2:46312696..46312947hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38252
hg19252
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
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671600
Frequency
Sample Size1151
Observed Gain0
Observed Loss206
Observed Complex0
Frequencyn/a


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