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 Variantsessv6408318, essv5655626, essv6479280, essv6590126, essv5910995, essv5434588, essv6052090, essv6356071, essv6270489, essv5602900, essv5916699, essv6018987, essv5412491, essv5915273, essv5769101, essv5934991, essv6492594, essv5568721, essv5680602, essv5575331, essv5530160, essv5725164, essv6424015, essv6419284, essv5781966, essv5813265, essv6505639, essv6396140, essv6144638, essv6464020, essv6217827, essv6153046, essv5684670, essv6565903, essv5989189, essv6277610, essv6398025, essv5734482, essv6593853, essv5829145, essv6212082, essv6227123, essv6199777, essv6434328, essv6097953, essv6191574, essv5890452, essv5636862, essv6483936, essv5659573, essv6237139, essv5679847, essv6449640, essv5534363, essv5853560, essv5819052, essv5919813, essv6186562, essv6393315, essv6560363, essv5821218, essv5814170, essv6572819, essv5424292, essv5771885, essv5933001, essv5743668, essv5666039, essv6553031, essv6031926, essv5850281, essv5546212, essv5680680, essv5599828, essv5945749, essv5545445, essv5677212, essv6434814, essv6076897, essv6377332, essv6560987, essv5500945, essv6473647, essv5913501, essv6096646, essv6272392, essv5478141, essv6175168, essv6509522, essv5480851, essv5673684, essv6106380, essv6558924, essv5712933, essv5668254, essv6154032, essv6062731, essv6587529, essv5406924, essv5921412, essv5455338, essv6170872, essv5500088, essv6100368, essv5723475, essv5986173, essv5411265, essv5578618, essv5776070, essv5424059, essv6518000, essv5919692, essv5426873, essv5452098, essv6171300, essv6590753, essv5571176, essv6526910, essv6194273, essv5568510, essv5555239, essv6381737, essv5749564, essv5527075, essv5503566, essv6557190, essv6104997, essv5914160, essv6305809, essv5514956, essv5947190, essv6021186, essv6099829, essv5933805, essv5829968, essv5825910, essv6398585, essv5599346, essv5812297, essv6496147, essv6532291, essv5622661, essv6117523, essv5456589, essv6133786, essv6114162, essv5803164, essv6241426, essv6266589, essv5665390, essv6440146, essv6356998, essv5813534, essv5797948, essv5935049, essv6224742, essv6155343, essv5511364, essv6042909, essv5990227, essv5844668, essv6584002, essv5942803, essv6245609, essv5601729, essv6009549, essv6486920, essv5806014, essv5664889, essv5542913, essv6428297, essv6288760, essv6457070, essv5613515, essv5997463, essv6409353, essv6494747, essv6450530, essv5854498, essv5506849, essv5488875, essv6263569, essv6076747, essv6543856, essv5957075, essv5882296, essv5746178, essv6321749, essv6361850, essv6460062, essv6583062, essv6276561, essv5418457, essv5902948, essv6369912, essv5468906, essv5466063, essv5861593, essv5831072, essv6028197, essv5919802, essv5793186, essv6535860, essv5816312, essv6432698, essv5896331, essv5807147, essv5428006, essv5691845, essv6437813, essv6055213, essv5455684, essv5402766, essv5435182, essv5800658, essv6167708, essv5917008, essv5491248, essv6187803, essv5588972, essv6224223, essv5534555, essv5566311, essv5646832, essv5864184, essv6536238, essv6077014, essv6469398, essv6060788, essv6097260, essv5547259, essv6560749, essv6258420, essv5954304, essv6234601, essv5413174, essv6544592, essv5646846, essv6465008, essv6267254, essv6594389, essv6191702, essv5650085, essv6388433, essv6027239, essv5828505, essv5559729, essv6067645, essv5958198, essv5778049, essv6072418, essv6350635, essv5583024, essv5438584, essv5858658, essv6189057, essv5730250, essv5962347, essv6241767, essv5599672, essv5552189, essv5839036, essv6402394, essv5709899, essv5783314, essv5946316, essv6476303, essv5449870, essv5654396, essv5994284, essv6546804, essv5767807, essv5663861, essv5632315, essv6239888, essv5472228, essv5865973, essv5535625, essv6494077, essv6335223, essv6085364, essv6170881, essv5537624, essv5606999, essv6063402, essv6106319, essv5584824, essv6078634, essv6232724, essv5479580, essv5522350, essv6394273, essv5493409, essv5416856, essv5936610, essv5971073, essv6361002, essv5487379, essv6046802, essv5444745, essv5428593, essv6460281, essv6065999, essv6228510, essv6358498, essv6002279, essv6190268, essv5687782, essv6406860, essv5734623, essv6402445, essv5950921, essv5754617, essv6090701, essv6275223, essv6424599, essv6264384, essv5550668, essv6437603, essv6274148, essv6184224, essv6462942, essv6017890, essv6411464, essv6284309, essv5978716, essv6051335, essv5452778, essv5553916, essv6288684, essv6005510, essv5900229, essv6070567, essv5437278, essv6095521, essv6431030, essv6329435, essv5796814, essv6310602, essv5459194, essv6137448, essv5801372, essv5603671, essv6250559, essv6095460, essv5455322, essv5552646, essv5894380, essv6291160, essv6165427, essv6574250, essv6585960, essv5924274, essv6585789, essv5818778, essv6187569, essv6321115, essv6207716, essv5752228, essv5906453, essv5749819, essv5955207, essv5483857, essv5926042, essv6011758, essv5746224, essv5834590, essv6379212, essv6108618, essv6242159, essv5703203, essv5687908, essv6579812, essv6404884, essv5923678, essv6309763, essv5876005, essv6034895
SamplesNA19394, NA12383, HG00189, NA19701, HG00650, HG00442, NA19703, HG01462, NA19909, NA18621, NA19066, NA19204, NA18861, NA18508, NA10851, HG00559, NA19399, NA12414, NA11920, NA11931, NA18999, NA20802, NA19350, HG00181, NA19359, NA12751, NA20294, NA19355, NA20332, NA19377, NA18959, NA18616, HG00449, NA19443, NA19920, HG00261, NA19067, NA18602, NA18627, NA12813, HG00663, NA19446, NA18563, NA19373, NA19171, NA19379, NA18940, NA19319, NA19315, NA18597, NA18558, NA18916, NA11918, NA18582, NA19457, NA18571, HG01365, HG00334, NA20287, NA19384, HG00537, HG00243, NA20291, NA19130, NA19079, NA18949, HG01069, NA20278, NA12156, HG00325, NA19372, NA19238, NA12044, NA11994, NA19235, NA19207, NA19172, NA19239, HG01048, NA18985, HG01133, NA20342, HG00326, HG00323, NA19985, NA18867, NA19789, NA19921, NA12777, NA18951, NA18605, NA19908, NA12489, NA18538, HG01171, NA19070, NA19670, NA19403, NA12878, NA19455, HG00556, NA18579, NA18948, NA18534, NA18981, HG00692, NA19064, NA18548, NA18907, NA20525, HG01102, HG00284, NA18573, NA19461, NA11919, HG00479, NA19453, NA18912, NA06989, NA19452, NA18963, HG00704, NA12144, NA18523, NA19469, NA19318, NA12546, HG01107, NA18974, NA12043, NA18953, NA18632, NA19440, NA19390, HG00336, NA19147, NA18517, NA20276, NA19712, NA19434, NA20815, NA19072, HG00580, NA19444, NA19331, NA19010, NA19679, NA19470, NA19428, NA19324, NA19311, NA18943, NA19360, HG00418, NA18615, HG01342, NA19328, NA18501, NA06994, HG00478, NA19223, NA19716, NA19468, HG00267, NA19474, NA19093, NA19102, NA18873, HG00112, NA20758, NA19116, NA19711, NA19900, NA20502, NA19430, NA18989, NA19129, NA19312, HG01125, HG00628, NA18968, NA12006, NA19463, NA18623, NA19065, NA18612, NA19429, NA19346, NA18487, NA19431, NA18577, HG00626, HG00096, NA11830, NA19700, NA19055, NA19397, NA19466, NA11995, NA19332, NA18980, NA18561, NA19704, HG01188, HG01389, NA12045, HG00318, NA19092, NA18486, NA19819, NA12004, NA20346, NA19190, NA19098, NA18870, NA07357, NA18967, NA19374, NA19068, NA19396, NA19381, NA19076, NA18944, NA19201, NA19382, NA18489, NA19448, HG01488, NA20586, NA19119, NA12891, NA19916, NA20769, NA19131, HG00610, NA19313, NA19088, NA12287, NA19138, NA19054, NA18498, NA20336, NA19404, HG01134, HG01455, HG01067, NA19383, HG00683, NA06984, HG00236, NA19917, NA19137, NA19371, NA19385, NA19471, NA19317, NA18986, NA19087, NA19159, HG00427, NA19901, HG00338, HG00159, NA19209, NA12828, NA19456, NA19445, NA18975, NA18973, NA19451, NA19200, NA18638, NA11993, NA19007, NA11831, HG01183, NA19247, NA19210, NA19707, NA12003, HG00428, NA19462, NA19347, NA19152, NA18956, NA19391, NA19327, HG00475, NA19236, NA18516, NA19982, NA18637, NA20506, NA20126, NA18910, NA18976, NA19776, NA19114, NA19000, NA19449, NA19655, HG01197, NA18499, NA11894, NA12249, NA12892, HG00525, NA18853, NA20282, NA19338, NA19257, NA19225, NA19160, NA18634, NA20534, NA18945, HG01204, NA19436, NA18546, NA19401, NA12716, NA18909, HG01190, HG00285, NA19834, NA19321, NA19108, NA18961, NA18559, HG00366, NA19473, NA18950, NA19435, NA18941, NA19240, NA19380, NA19144, NA07051, NA19334, HG00607, NA19439, NA19467, HG01108, NA06986, HG00269, HG00125, NA19818, NA19759, NA19376, NA19398, HG00707, HG00111, NA20348, NA19248, NA18971, NA19438, NA19472, HG00421, NA12749, HG00656, NA20334, NA19713, HG01055, HG00174, NA19213, NA18972, NA18552, NA07056, NA18505, HG01378, NA19004, NA20322, NA18511, NA07000, NA18622, NA19153, NA18562, NA12776
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


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer