A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421429



Internal ID8251877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:1576544..1613247hg38UCSC Ensembl
Innerchr20:1557190..1593893hg19UCSC Ensembl
Innerchr20:1505190..1541893hg18UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3836704
hg1936704
hg1836704
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5063688, essv5122346, essv5103425, essv5029416, essv5024881, essv5050189, essv5040935, essv5105578, essv5148324, essv5118669, essv5105269, essv5060843, essv5150535, essv5120646, essv5135512, essv5046657, essv5041893, essv5145237, essv5143715, essv5111186, essv5050712, essv5039714, essv5075823, essv5048272, essv5021664, essv5139771, essv5159383, essv5079726, essv5019042, essv5081900, essv5069544, essv5105807, essv5087354, essv5130458, essv5114081, essv5086326, essv5155611, essv5143756, essv5139706, essv5149850, essv5095717, essv5067446, essv5058785, essv5093934, essv5126616, essv5062410, essv5041141, essv5043626, essv5057649, essv5046354, essv5157796, essv5036134, essv5004667, essv5139531, essv5085667, essv5106146, essv5108119, essv5056412, essv5050901, essv5036819, essv5052022, essv5140351, essv5061559, essv5077165, essv5056541, essv5018493, essv5132042, essv5080100, essv5071885, essv5104108, essv5078834, essv5136782, essv5128221, essv5150472, essv5082998, essv5084377, essv5023406, essv5098924, essv5014800, essv5065966, essv5043822, essv5084762, essv5036815, essv5012160, essv5108495, essv5103990, essv5034569, essv5084813, essv5011255, essv5156335, essv5110812, essv5063884, essv5059509, essv5025114, essv5129086, essv5083641, essv5069608, essv5073279, essv5116239, essv5032772, essv5091327, essv5069135, essv5093489, essv5019038, essv5130812, essv5068919, essv5149863, essv5090468, essv5109478, essv5086749, essv5060298, essv5141890, essv5102011, essv5092616, essv5138594, essv5038504, essv5091581, essv5031194, essv5140185, essv5060665, essv5101321, essv5091880, essv5038418, essv5017820, essv5119681, essv5140588, essv5064634, essv5019293, essv5152833, essv5043775, essv5014012, essv5057753, essv5104285, essv5128399, essv5117882, essv5097783, essv5134168, essv5079355, essv5140106, essv5124639, essv5005389, essv5105177, essv5063786, essv5061051, essv5095674, essv5012121, essv5002372, essv5054783, essv5073156, essv5158878, essv5139123, essv5117795, essv5018512, essv5073547, essv5064227, essv5002486, essv5051604, essv5144449, essv5080969, essv5033435, essv5022394, essv5134551, essv5127515, essv5125093, essv5067039, essv5061015, essv5149322, essv5121883, essv5124637, essv5015927, essv5074429, essv5039569, essv5104216, essv5126643, essv5057508, essv5145003, essv5145346, essv5093357, essv5094885, essv5119275, essv5130518, essv5082568, essv5088058, essv5012738, essv5138836, essv5128862, essv5065351, essv5058718, essv5089750, essv5052513, essv5004063, essv5110589, essv5160276, essv5099806, essv5002300, essv5089296, essv5060783, essv5094151, essv5118254, essv5039379, essv5132213, essv5054351, essv5072047, essv5123599, essv5151055, essv5156350, essv5003507, essv5153015, essv5004260, essv5110579, essv5032710, essv5067632, essv5065247, essv5153323, essv5043054, essv5076123, essv5060979, essv5044937, essv5003644, essv5002153, essv5090476, essv5022100, essv5014281, essv5116115, essv5108739, essv5014361, essv5147180, essv5043025, essv5009530, essv5003241, essv5121791, essv5020634, essv5132061, essv5122918, essv5147261, essv5079073, essv5117250, essv5023080, essv5120237, essv5082017, essv5034433, essv5046271, essv5031872, essv5061892, essv5043245, essv5054915, essv5077931, essv5059217, essv5091415, essv5151366, essv5094484, essv5106251, essv5006773, essv5027220, essv5108254, essv5030600, essv5157073, essv5146825, essv5055148, essv5015328, essv5103802, essv5044920, essv5088514, essv5156842, essv5041185, essv5099939, essv5027082, essv5116664, essv5075021, essv5048610, essv5033889, essv5093359, essv5136537, essv5102976, essv5080116, essv5071541, essv5107426, essv5038164, essv5106341, essv5122563, essv5093381, essv5093309, essv5059483, essv5046111, essv5003276, essv5056954, essv5016233, essv5141678, essv5137690, essv5096842, essv5002318, essv5083275, essv5124265, essv5027131, essv5150645, essv5097126, essv5065381, essv5014958, essv5045287, essv5036617, essv5017918, essv5075174, essv5104961, essv5153875, essv5147955, essv5099120, essv5055073, essv5018703, essv5014750, essv5142345, essv5126967, essv5033046, essv5136568, essv5096701, essv5108171, essv5024469, essv5082316, essv5072896, essv5075821, essv5030141, essv5069195, essv5014593, essv5139176, essv5066339, essv5097949, essv5106657, essv5055495, essv5139801, essv5039583, essv5014947, essv5032200, essv5156626, essv5076218, essv5138376, essv5156225, essv5072874, essv5054827, essv5156997
SamplesNA18745, NA12383, NA18139, NA20529, NA19909, NA18947, NA12286, NA20508, NA19066, NA18647, NA18861, NA20300, NA12273, NA18524, NA20783, NA20816, NA20512, NA19350, NA17990, NA12801, NA18504, NA12146, NA19684, NA18959, NA18152, NA18633, NA12750, NA20806, NA18602, NA18627, NA21739, NA07346, NA18563, NA17974, NA19373, NA18940, NA21520, NA10854, NA19678, NA21473, NA12802, NA20756, NA19686, NA18993, NA18558, NA18916, NA11918, NA07347, NA19784, NA19457, NA21353, NA21613, NA18136, NA18159, NA19720, NA19123, NA21109, NA17997, NA18160, NA11994, NA17996, NA18966, NA20889, NA19239, NA18557, NA20342, NA19708, NA10839, NA21417, NA18129, NA20301, NA18605, NA12752, NA19056, NA19670, NA12878, NA20885, NA19161, NA18118, NA20810, NA12877, NA19683, NA19751, NA20875, NA20519, NA18948, NA20876, NA19064, NA19654, NA12818, NA19671, NA20901, NA18875, NA20581, NA12829, NA18156, NA21295, NA18930, NA12056, NA19781, NA19750, NA18122, NA19656, NA17965, NA12145, NA19059, NA12707, NA07345, NA18127, NA19132, NA12546, NA18974, NA12043, NA18108, NA20851, NA18114, NA18632, NA19652, NA18863, NA12057, NA19747, NA19072, NA20520, NA19010, NA21123, NA17989, NA21718, NA19679, NA17970, NA20544, NA19083, NA18943, NA07348, NA19783, NA12763, NA18615, NA19662, NA06994, NA18631, NA21090, NA20871, NA19716, NA20510, NA18636, NA18609, NA18873, NA12875, NA19780, NA19711, NA17972, NA19121, NA18957, NA21363, NA11892, NA18624, NA12006, NA18623, NA12154, NA19065, NA18740, NA18144, NA18612, NA21091, NA19676, NA18120, NA18998, NA20877, NA11995, NA12814, NA20899, NA18980, NA19763, NA18641, NA19795, NA18545, NA17966, NA07029, NA21717, NA19057, NA12248, NA12865, NA18125, NA19669, NA18962, NA20846, NA18967, NA19374, NA19068, NA19746, NA19660, NA19381, NA19076, NA20796, NA18550, NA12812, NA19382, NA19762, NA20890, NA20279, NA18635, NA12891, NA20769, NA12348, NA19131, NA11992, NA19653, NA20540, NA19088, NA19138, NA21103, NA18498, NA19782, NA19681, NA18964, NA06993, NA20910, NA19760, NA12761, NA18749, NA12282, NA12005, NA19383, NA20896, NA18977, NA19917, NA19915, NA19677, NA19075, NA18617, NA19087, NA12889, NA20869, NA20343, NA19159, NA19002, NA10855, NA19721, NA12828, NA18975, NA18640, NA12375, NA18973, NA18158, NA12748, NA20818, NA11831, NA10847, NA20854, NA18544, NA19437, NA20787, NA10836, NA12342, NA12872, NA20809, NA18956, NA19748, NA19391, NA18529, NA20895, NA18939, NA18151, NA18637, NA18132, NA19788, NA20506, NA12376, NA21098, NA18976, NA18503, NA11839, NA19776, NA18757, NA07045, NA19774, NA19000, NA11894, NA10830, NA18946, NA19001, NA12239, NA18853, NA20282, NA18135, NA12817, NA20828, NA18536, NA20542, NA19675, NA18945, NA19436, NA19727, NA21113, NA11882, NA20773, NA18542, NA19918, NA12716, NA06997, NA19108, NA18952, NA18543, NA18559, NA12864, NA10859, NA19749, NA20804, NA19380, NA07051, NA10861, NA10840, NA19467, NA20516, NA20797, NA21094, NA19085, NA06986, NA21125, NA19759, NA12740, NA19109, NA20302, NA18971, NA20582, NA19060, NA17987, NA19726, NA18854, NA17988, NA18972, NA19661, NA18505, NA19775, NA19139, NA07000, NA18148, NA12776, NA10865
Known GenesSIRPB1
MethodSNP array
AnalysisTo assess copy number variation we merged and analysed the probe level intensity data from both the Affymetrix and Illumina arrays.
PlatformNot specified
Comments
ReferenceAltshuler_et_al_2010
Pubmed ID20811451
Accession Number(s)esv2421429
Frequency
Sample Size1184
Observed Gain338
Observed Loss0
Observed Complex0
Frequencyn/a


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