A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657638



Internal ID9577057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:63420755..63421084hg38UCSC Ensembl
chr14:63887473..63887802hg19UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg38330
hg19330
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5875250, essv5898452, essv5853594, essv6237967, essv5503198, essv6059586, essv5539264, essv6018902, essv5705337, essv6091148, essv5732566, essv6582166, essv6406558, essv6028373, essv5662766, essv5821064, essv6592915, essv6411775, essv6395027, essv5604322, essv5625897, essv6207330, essv5707565, essv6070076, essv5573943, essv5988865, essv6447029, essv6343443, essv6191154, essv5905504, essv5561463, essv6274376, essv6405085, essv5774174, essv5906790, essv5796346, essv6338340, essv5473381, essv5531475, essv5996068, essv5550401, essv6479428, essv5461212, essv5610053, essv5848863, essv5890119, essv6071778, essv6275098, essv5520822, essv5664508, essv5530107, essv5724633, essv6562846, essv5619481, essv6345520, essv5398437, essv5519454, essv5677301, essv6356419, essv5571304, essv5905000, essv5739646, essv5938288, essv5829764, essv6328912, essv5815041, essv5456665, essv6271292, essv5743806, essv6312201, essv6025877, essv5756556, essv6340320, essv5995473, essv6224256, essv5525565, essv6485603, essv5461722, essv5827464, essv5868095, essv5407902, essv6365997, essv5508688, essv6164417, essv6361011, essv5530532, essv5615048, essv5967547, essv5490786, essv5940945, essv6004835, essv6285579, essv6113897, essv5420464, essv5625612, essv5967747, essv6193028, essv5420558, essv5596656, essv6088688, essv6466104, essv6128972, essv6169095, essv6228101, essv5618696, essv5699540, essv5541572, essv6199168, essv6108623, essv6329199, essv6533071, essv5666522, essv6027456, essv6553853, essv5914103, essv6162378, essv5758383, essv6036298, essv5950238, essv6005458, essv6019277, essv5730163, essv6038660, essv6166424, essv6013666, essv5816017, essv6288420, essv6529699, essv5559567, essv6149241, essv6193843, essv6446190, essv6557631, essv5928311, essv5479085, essv5597063, essv5897813, essv6270899, essv6002292, essv6425350, essv6535251, essv6561360, essv5726156, essv6407601, essv5706032, essv5948219, essv6497058, essv6295861, essv6375896, essv6461498, essv5690261, essv5469658, essv5558185, essv6196316, essv5582033, essv6111183, essv6186392, essv5990933, essv6099568, essv6437147, essv6009026, essv5482835, essv5512041, essv6050452, essv6110347, essv6445582, essv5404873, essv5590287, essv6137215, essv5429497, essv5483288, essv5760724, essv6050027, essv6056997, essv6486844, essv5857190, essv5941460, essv6413977, essv6452669, essv6237435, essv5786313, essv5568931, essv5923628, essv6431371, essv6445049, essv5661887, essv5754371, essv6583833, essv5525420, essv5972138, essv5488105, essv5897677, essv6044207, essv6094984, essv5669388, essv6586843, essv5560534, essv5934396, essv6444018, essv5787875, essv5865926, essv6379902, essv5952945, essv6378651, essv6471649, essv6001927, essv5854730, essv5732326, essv6584721, essv6235776, essv6248612, essv6384130, essv6543774, essv5434655, essv6106556, essv6296633, essv5716488, essv5582642, essv5915075, essv5905623, essv6001628, essv6178248, essv6422809, essv6450007, essv5986647, essv6129879, essv5996864, essv5868173, essv6070423, essv6281115, essv6366366, essv6379302, essv5857725, essv6184142, essv6396824, essv5857230, essv6594074, essv5675724, essv6296933, essv6160210, essv6103354, essv6524557, essv6518283, essv6078900, essv5608718, essv5588034, essv6262881, essv5551318, essv5767207, essv6162741, essv5719501, essv5405234, essv6059520, essv6216397, essv5805628, essv6338867, essv5417777, essv6266530, essv6348187, essv6478986, essv6585085, essv5726733, essv6058871, essv6307020, essv5968393, essv6125271, essv6038604, essv6292694, essv5852862, essv5860337, essv6206514, essv6581897, essv6483434, essv6015224, essv6027017, essv6146225, essv5654543, essv5643556, essv6287350, essv6262850, essv6443918, essv6420395, essv6523068, essv6165503, essv5760798, essv6518363, essv6543616, essv6369449, essv5512196, essv5822459, essv5962637, essv6123845, essv6278071, essv5500172, essv5896364, essv6557798, essv6052000, essv5530505, essv6305511, essv5541876, essv5876615, essv6128587, essv6073787, essv5442213, essv6090392, essv5429172
SamplesNA18621, NA19207, NA18870, NA12154, NA12489, HG00537, NA18605, NA07347, NA19712, NA18520, NA18595, HG00182, NA19904, NA18630, NA18871, HG00418, NA12286, NA19819, NA18523, NA19437, NA19114, HG01173, NA11920, NA20510, NA19209, NA18501, HG00131, NA18526, NA19311, NA11918, NA19435, NA18545, NA18516, HG00577, NA20808, HG01082, NA18953, NA19451, NA18972, HG01488, NA12828, NA18517, NA19449, NA18573, NA18608, NA19920, HG00270, NA18489, HG00190, NA19144, NA18546, NA19210, NA19379, HG01167, NA18507, HG00683, HG00698, NA19834, HG01188, HG00111, NA12776, NA07051, HG00651, HG00335, HG00557, HG01134, NA19257, NA19682, NA19108, HG00331, NA18488, NA19355, NA19474, NA19084, HG00699, NA18505, NA18950, NA19147, NA18949, NA19438, NA19654, NA20586, HG00256, HG00342, NA19077, NA18559, HG00339, HG00556, HG01148, NA19067, NA12763, NA18912, NA19383, NA18624, NA18508, NA18967, NA19239, HG01375, NA12004, HG01378, NA11994, NA18635, NA19917, NA18576, HG00259, NA19471, NA19444, HG00610, NA18617, NA18990, NA20783, HG01495, HG01047, HG00689, NA18856, NA18638, NA19398, NA19440, NA19066, HG00338, NA11933, NA18609, NA20765, NA11831, NA18976, NA19256, HG01136, NA12400, NA18973, NA18916, HG00174, NA18982, NA19681, HG00284, HG00403, NA19457, HG00357, NA19700, HG00133, HG00662, HG00114, NA19190, HG01497, NA12006, HG00306, HG00436, NA19247, NA19360, NA19725, NA19313, NA19377, NA19153, HG01465, NA19129, NA19172, NA19372, HG01516, NA18633, NA20291, HG01191, NA20126, NA20512, HG00732, HG00629, NA18486, NA18968, NA18986, NA19102, HG00559, NA18522, NA19238, NA19005, NA18510, NA19119, NA19657, NA19002, NA19713, HG01073, NA18558, NA18977, NA19098, NA18941, HG00501, HG00672, NA19901, HG00232, HG01356, HG00249, NA18564, NA18858, NA18942, NA18961, HG00277, NA19347, NA19909, NA20797, HG00513, NA19720, HG00329, NA19707, NA19074, NA19131, NA19159, NA19382, NA18579, NA19711, NA18974, NA19462, NA18945, NA19235, NA18582, HG01190, NA18552, NA19729, HG01095, NA18907, NA18567, NA19078, HG00650, NA06984, NA18538, NA18867, NA19394, NA18565, NA19116, NA18631, NA18560, NA20289, HG00580, NA19747, HG00118, NA18971, HG00448, NA19755, NA19818, HG00608, NA18577, NA19446, NA20507, HG00530, NA18548, NA11830, NA11992, HG00281, HG00285, NA18944, NA12399, NA19399, HG00656, NA19160, NA18499, NA19371, NA19916, NA18610, NA19315, HG00693, HG01177, NA19171, NA19346, HG00275, NA18549, NA18574, NA18853, NA19204, NA18981, NA19350, HG01102, NA19381, NA20804, HG00626, NA06994, HG00476, HG00345, NA19468, HG00704, NA19200, HG00271, HG00278, NA19007, NA19065, NA07000, NA19466, NA18980, HG01198, NA20281, NA19137, NA19152, NA19625, HG00536, HG00607, NA07037, HG01055, NA18975, NA18874, HG01342, NA20516, HG00369, HG00596, NA19401, NA19060, NA18570, NA19003, NA18511, NA19455, NA20294, NA12813
Known GenesPPP2R5E
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657638
Frequency
Sample Size1151
Observed Gain0
Observed Loss306
Observed Complex0
Frequencyn/a


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