A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676165



Internal ID9595584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:51818710..51819039hg38UCSC Ensembl
chr10:53578470..53578799hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg38330
hg19330
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5459194, essv5746178, essv6557190, essv6018987, essv6437813, essv6242159, essv5663861, essv5691845, essv5599828, essv6305809, essv5537624, essv6170881, essv5781966, essv5771885, essv5479580, essv5917008, essv6558924, essv5493409, essv5534363, essv6496147, essv6267254, essv6241426, essv5555239, essv6096646, essv5743668, essv6369912, essv6402394, essv5684670, essv5825910, essv6574250, essv6199777, essv5553916, essv6184224, essv6224223, essv6232724, essv6009549, essv6034895, essv5749819, essv5902948, essv5936610, essv5568510, essv6587529, essv5797948, essv5865973, essv6011758, essv5882296, essv5646846, essv5547259, essv5673684, essv5542913, essv6095460, essv6518000, essv5821218, essv5767807, essv5834590, essv5807147, essv5444745, essv6585960, essv6479280, essv5916699, essv6175168, essv6335223, essv6250559, essv5858658, essv6239888, essv5522350, essv5437278, essv6590126, essv6361850, essv6263569, essv5813534, essv6224742, essv5583024, essv5919692, essv6241767, essv5455322, essv6117523, essv6194273, essv5801372, essv5413174, essv6097260, essv6409353, essv6277610, essv6191574, essv6457070, essv6002279, essv5900229, essv5666039, essv6076897, essv5636862, essv6270489, essv6171300, essv5913501, essv5989189, essv5552646, essv5449870, essv5680680, essv5829145, essv5452778, essv6408318, essv6063402, essv5500945, essv6310602, essv6460281, essv6560363, essv5483857, essv6358498, essv5861593, essv5503566, essv5406924, essv5655626, essv6097953, essv5923678, essv5853560, essv6553031, essv6027239, essv5958198, essv6276561, essv6272392, essv6106380, essv5997463, essv5934991, essv5746224, essv5665390, essv6398585, essv6106319, essv5599672, essv5946316, essv6449640, essv6065999, essv6593853, essv6321749, essv5947190, essv6590753, essv6321115, essv6536238, essv5552189, essv6309763, essv5687908, essv6212082, essv5723475, essv6428297, essv5769101, essv6419284, essv6189057, essv6021186, essv6291160, essv6440146, essv6187569, essv6104997, essv6275223, essv5506849, essv5428593, essv5491248, essv6165427, essv6464020, essv5933001, essv6544592, essv6460062, essv6356071, essv5613515, essv6437603, essv6264384, essv5709899, essv6526910, essv5480851, essv5472228, essv6377332, essv5818778, essv5864184, essv5466063, essv6356998, essv5530160, essv5793186, essv6062731, essv5803164, essv6388433, essv5734482, essv6078634, essv6432698, essv5754617, essv6379212, essv5418457, essv6191702, essv5828505, essv5435182, essv6594389, essv6067645, essv5730250, essv5416856, essv5680602, essv5783314, essv5800658, essv5424059, essv5978716, essv5514956, essv6396140, essv6070567, essv5456589, essv5411265, essv5588972, essv5812297, essv6227123, essv5550668, essv5986173, essv6469398, essv5527075, essv5914160, essv5488875, essv6154032, essv6431030, essv5924274, essv6350635, essv6424599, essv6076747, essv6042909, essv5894380, essv6584002, essv6186562, essv5603671, essv6546804, essv5687782, essv5703203, essv6361002, essv6288684, essv5455338, essv6434328, essv6483936, essv5566311, essv6404884, essv5796814, essv6494747, essv5844668, essv6095521, essv6284309, essv5994284, essv6381737, essv6190268, essv5426873, essv5776070, essv6258420, essv6585789, essv6167708, essv6398025, essv6051335, essv5511364, essv6055213, essv6424015, essv5568721, essv5602900, essv5945749, essv5650085, essv5606999, essv5654396, essv5622661, essv6237139, essv6543856, essv5906453, essv5578618, essv5839036, essv6434814, essv6187803, essv6288760, essv5438584, essv6572819, essv5455684, essv5500088, essv5668254, essv5850281, essv6228510, essv6492594, essv5942803, essv5478141, essv5831072, essv5487379, essv6462942, essv6494077, essv6579812, essv5915273, essv6266589, essv5954304, essv5813265, essv6077014, essv5646832, essv5734623, essv5534555, essv6099829, essv6406860, essv6450530, essv5571176, essv5559729, essv6465008, essv6274148, essv5778049, essv5601729, essv6394273, essv5428006, essv6028197, essv6114162, essv5876005, essv5468906, essv6060788, essv6217827, essv6005510, essv6046802, essv5962347, essv5712933, essv5664889, essv6072418, essv6144638, essv5919813, essv6411464, essv6234601, essv6509522, essv5535625, essv5752228, essv6133786, essv5955207, essv6170872, essv6245609, essv5921412, essv5819052, essv6473647, essv5814170, essv6532291, essv5725164, essv5890452, essv5434588, essv5896331, essv5926042, essv6535860, essv5854498, essv5919802, essv5659573, essv5546212, essv6100368, essv5632315, essv6402445, essv5933805, essv6486920, essv5806014, essv5545445, essv6476303, essv5584824, essv5935049, essv5677212, essv5575331, essv6155343, essv6137448, essv6052090, essv6085364, essv6393315, essv5910995, essv6108618, essv6153046, essv5990227, essv6560987, essv5424292, essv6017890, essv6329435, essv6565903, essv5829968, essv5452098, essv5402766, essv5679847, essv5599346, essv6031926, essv6583062, essv5749564, essv6090701, essv5816312, essv5957075, essv5950921, essv5412491, essv5971073, essv6505639, essv6207716, essv6560749
SamplesNA18621, NA19207, NA18870, NA19248, NA19312, NA12489, HG00537, NA18605, NA19712, NA18616, NA18951, NA18534, HG00418, NA19819, NA18523, NA19114, NA11920, NA19209, HG00112, NA18501, NA19093, NA19311, NA11918, NA19469, NA20346, NA19223, NA19435, HG01389, NA19319, HG01197, NA18516, NA19359, HG01365, NA19334, HG00189, NA19331, NA19453, NA18953, HG01488, NA12828, NA18517, HG00428, HG00475, NA19449, NA19920, NA18489, NA19144, NA18546, NA19379, HG00683, HG00111, HG00334, NA18963, NA07051, HG01134, NA19257, NA19701, NA19236, NA20322, NA18505, NA19472, NA12287, NA18943, NA18950, HG01171, NA18949, HG00269, NA12414, HG01107, NA19463, HG00556, NA11919, NA18967, NA19239, NA18627, NA19076, NA19390, HG00421, NA12004, HG01378, NA19917, NA18622, NA19443, HG00096, NA18623, NA19471, HG01048, NA19444, HG00692, HG01183, NA19088, NA18638, NA18956, NA19398, NA19429, NA19440, NA19908, NA19066, HG00338, NA18959, HG00125, NA19985, NA11831, NA18976, NA11894, NA18637, NA18973, NA20282, NA20336, NA11995, NA18916, HG00174, HG00243, NA19679, HG00284, NA19457, NA12777, NA18634, NA19700, NA12144, NA19324, NA12751, NA19190, NA12006, NA19000, NA19055, NA19213, NA20769, NA19247, NA19360, HG00159, HG00267, NA19313, NA19377, NA19380, NA19153, NA12716, NA19129, NA19172, NA19759, NA12892, NA19372, NA20291, NA19374, NA19703, NA20126, NA20348, NA19373, NA19384, HG00325, NA18498, NA19716, NA18486, NA18968, NA18986, NA19102, HG00559, NA06986, NA19238, HG01455, NA20334, NA19119, NA19713, NA18558, NA19098, NA18941, NA19901, HG01069, NA19704, HG00478, NA18487, NA18961, NA19347, NA19332, NA19909, NA20815, NA19707, HG00525, NA18562, NA19131, NA19159, NA19328, NA18910, NA19382, NA18579, NA19318, NA19711, NA18974, NA18985, NA19789, HG00236, NA19462, NA18945, NA18940, NA19235, NA12891, NA10851, NA18582, NA18999, NA20525, HG00427, NA18597, NA19921, HG01190, NA18552, NA19138, NA19376, NA20534, NA18907, NA18909, HG00181, NA19391, NA19201, NA12749, NA20276, NA20332, HG00650, NA06984, NA18538, NA18867, NA19394, NA19403, HG00663, NA12156, NA19116, NA19431, NA18989, HG00580, NA20287, NA18971, NA19434, NA18602, NA19818, NA18577, NA19446, NA12878, NA19452, NA18548, NA11830, NA12003, NA19064, HG00285, NA18944, NA19225, NA19327, NA11993, NA19399, HG00656, NA12546, NA19160, NA19655, NA18499, NA18571, NA19371, NA19916, HG01108, NA20758, NA19070, NA19470, NA12045, NA19315, HG01125, NA19130, NA19171, NA19240, NA19346, NA18853, NA19204, HG00442, NA18981, NA19350, HG01102, HG01462, NA19079, NA19381, NA19473, HG00626, NA06994, NA18615, HG00336, NA19448, NA20502, NA19087, NA19092, NA19468, HG00704, NA19200, NA19385, NA19007, NA19456, NA19065, NA07000, NA19466, NA18980, HG01067, NA19439, HG00323, NA19137, NA12043, NA19152, NA19445, NA12249, NA18861, NA19436, HG00318, HG00607, NA19321, NA20278, NA18561, NA20506, NA19404, HG01055, NA18975, NA07056, HG01342, NA18612, NA19401, HG00449, NA19072, HG00261, HG00707, NA18511, NA19455, NA06989, NA20294, NA20802, NA18948, NA19430, NA19670, NA11931, NA19317, NA12813, NA19451, NA18972, NA19010, NA19338, NA20342, HG00326, NA18573, NA19461, NA19210, NA19834, HG01188, HG01204, NA12776, NA19004, HG00366, NA19108, NA19355, NA19474, NA12044, NA19467, NA18873, NA19147, NA19776, HG00479, NA19438, NA20586, HG01133, NA18632, NA18559, NA19067, NA19428, NA18912, NA19383, NA19982, NA18508, NA19054, NA12383, NA11994, NA19068, NA18563, NA07357, NA19900, HG00610, NA19396, HG00628, NA19397
Known GenesPRKG1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676165
Frequency
Sample Size1151
Observed Gain0
Observed Loss378
Observed Complex0
Frequencyn/a


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