A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422067



Internal ID7905829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:189645889..189648974hg38UCSC Ensembl
Innerchr3:189363678..189366763hg19UCSC Ensembl
Innerchr3:190846372..190849457hg18UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg383086
hg193086
hg183086
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5087550, essv5114756, essv5005895, essv5049724, essv5123208, essv5120419, essv5068398, essv5040270, essv5027083, essv5073698, essv5150640, essv5106074, essv5074265, essv5034172, essv5033242, essv5155179, essv5130804, essv5111672, essv5065137, essv5088659, essv5021725, essv5069313, essv5044431, essv5058915, essv5008151, essv5111703, essv5014116, essv5014194, essv5110085, essv5138356, essv5023149, essv5104979, essv5020495, essv5144147, essv5075733, essv5151944, essv5115229, essv5003854, essv5068623, essv5037855, essv5034946, essv5136145, essv5043278, essv5112205, essv5044562, essv5040607, essv5053673, essv5151334, essv5081172, essv5007136, essv5100484, essv5078106, essv5028374, essv5097841, essv5145177, essv5143181, essv5142721, essv5070391, essv5009818, essv5081469, essv5109583, essv5099645, essv5086662, essv5080669, essv5028407, essv5140637, essv5003120, essv5116997, essv5085180, essv5143805, essv5115896, essv5036228, essv5055663, essv5038492, essv5035313, essv5041579, essv5037113, essv5134371, essv5047340, essv5035030, essv5063309, essv5143011, essv5132307, essv5098339, essv5021439, essv5023110, essv5010337, essv5077285, essv5118123, essv5034011, essv5086174, essv5129361, essv5139608, essv5037988, essv5120137, essv5056982, essv5084493, essv5143757, essv5141147, essv5126644, essv5118428, essv5080105, essv5003572, essv5116711, essv5072109, essv5129098, essv5064109, essv5134208, essv5098975, essv5046420, essv5011224, essv5028443, essv5152604, essv5135948, essv5037355, essv5130699, essv5104767, essv5067224, essv5112416, essv5123022, essv5060083, essv5049615, essv5096861, essv5018208, essv5150012, essv5137235, essv5159379, essv5140866, essv5095681, essv5040905, essv5157549, essv5029910, essv5137479, essv5027753, essv5019531, essv5112697, essv5127986, essv5021633, essv5141454, essv5074453, essv5115564, essv5078990, essv5009794, essv5079867, essv5058289, essv5161020, essv5038262, essv5153703, essv5113158, essv5008752, essv5004587, essv5014028, essv5135669, essv5139785, essv5081201, essv5018712, essv5014152, essv5012848, essv5132311, essv5125758, essv5115221, essv5154093, essv5066178, essv5042899, essv5079667, essv5091881, essv5118694, essv5032301, essv5118131, essv5075830, essv5006594, essv5017793, essv5099662, essv5122321, essv5127047, essv5026979, essv5029648, essv5080170, essv5080474, essv5061917, essv5146229, essv5009524, essv5139234, essv5059388, essv5142468, essv5047795, essv5055905, essv5075040, essv5098451, essv5054606, essv5058650, essv5012018, essv5008344, essv5138860, essv5061667, essv5092555, essv5054664, essv5082916, essv5050050, essv5025906, essv5063800, essv5074012, essv5022844, essv5093783, essv5083380, essv5013487, essv5092805, essv5056894, essv5054092, essv5050094, essv5118717, essv5127661, essv5101730, essv5060466, essv5086979, essv5155901, essv5059977, essv5046333, essv5132294, essv5129652, essv5130514, essv5052419, essv5134526, essv5014773, essv5158550, essv5091858, essv5041102, essv5131280, essv5071589, essv5026349, essv5003560, essv5136698, essv5071135, essv5013704, essv5144260, essv5040312, essv5031040, essv5022358, essv5137609, essv5095824, essv5102988, essv5047711, essv5129868, essv5096838, essv5147528, essv5004182, essv5002541, essv5132889, essv5150689, essv5107450, essv5046088, essv5041639, essv5156132, essv5018821, essv5075654, essv5106706, essv5107770, essv5080230, essv5073624, essv5108466, essv5120370, essv5036205, essv5072868, essv5049634, essv5088105, essv5160717, essv5129018, essv5143486, essv5140456, essv5124432, essv5150930, essv5138678, essv5048102, essv5103187, essv5022390, essv5041691, essv5103973, essv5045784, essv5022429, essv5011763, essv5108146, essv5040809, essv5048511, essv5027397, essv5018847, essv5005861, essv5108417, essv5083825, essv5074719, essv5070200, essv5019594, essv5051133, essv5029487, essv5116915, essv5058059, essv5012864, essv5024511, essv5131389, essv5035017, essv5059351, essv5054381, essv5143324, essv5125995, essv5109328, essv5080733, essv5003994, essv5088235, essv5072905, essv5100884, essv5005631, essv5081894, essv5145799, essv5013572, essv5079019, essv5024007, essv5113682, essv5047600, essv5117529, essv5139959, essv5149973, essv5097176, essv5003901, essv5093170, essv5085755, essv5151094, essv5084687, essv5046560, essv5114230, essv5065418, essv5081979, essv5067839, essv5153387, essv5142838, essv5084183, essv5059934, essv5031274, essv5100236, essv5004153, essv5003736, essv5071777, essv5126023, essv5093893, essv5152070, essv5146014, essv5107408, essv5138058, essv5085630, essv5021332, essv5138165, essv5102593, essv5070458, essv5046083, essv5108900, essv5084824, essv5030980, essv5091211, essv5021121, essv5017450, essv5101172, essv5160015, essv5159253, essv5153289, essv5075964, essv5030728, essv5061096, essv5065186, essv5115623, essv5106680, essv5094872, essv5117990, essv5049142, essv5019693, essv5150122, essv5116995, essv5003382, essv5043064, essv5046800, essv5115877, essv5154950, essv5094390, essv5092506, essv5040458, essv5021640, essv5037882, essv5008208, essv5139855, essv5068320, essv5094409, essv5027138, essv5080777, essv5113206, essv5073597, essv5073465, essv5099631, essv5127470, essv5013928, essv5121327, essv5160740, essv5087618, essv5159507, essv5126062, essv5052040
SamplesNA18745, NA21636, NA19058, NA20529, NA12842, NA18947, NA19066, NA18508, NA21099, NA18935, NA21352, NA11931, NA18979, NA18999, NA18639, NA21367, NA17990, NA18504, NA12340, NA18124, NA18959, NA18616, NA21738, NA12832, NA20364, NA18152, NA18633, NA21522, NA20359, NA12399, NA18602, NA18969, NA18627, NA18563, NA17974, NA19379, NA18940, NA17980, NA19315, NA18597, NA21359, NA18995, NA21473, NA18107, NA19191, NA20911, NA18101, NA18558, NA18618, NA21297, NA21479, NA19784, NA18571, NA12762, NA17983, NA21353, NA19079, NA18949, NA20539, NA21109, NA17997, NA18868, NA19372, NA19238, NA17996, NA18689, NA17993, NA19226, NA19036, NA20889, NA18990, NA19239, NA18102, NA21417, NA21400, NA20127, NA19985, NA21105, NA18129, NA19027, NA20301, NA17998, NA20892, NA17976, NA21313, NA19908, NA18747, NA21414, NA21587, NA19070, NA19056, NA19175, NA18117, NA19161, NA18933, NA18118, NA20521, NA19184, NA19176, NA20883, NA21300, NA12877, NA18579, NA18534, NA18537, NA18573, NA17979, NA19142, NA20901, NA19084, NA12386, NA18626, NA17999, NA12829, NA21112, NA19181, NA19151, NA21295, NA18122, NA19154, NA18857, NA19099, NA19059, NA18555, NA19452, NA18963, NA21356, NA18127, NA19318, NA18570, NA19625, NA18974, NA21608, NA20319, NA18953, NA19375, NA18108, NA20851, NA18114, NA18632, NA18146, NA21117, NA19309, NA18702, NA19390, NA19115, NA19149, NA21144, NA19712, NA18564, NA18628, NA19072, NA12272, NA20909, NA20870, NA12873, NA18128, NA21768, NA19010, NA17989, NA21390, NA19428, NA17970, NA19083, NA18943, NA19783, NA12763, NA18615, NA17982, NA19117, NA18501, NA21435, NA19705, NA19223, NA20871, NA19211, NA20852, NA18609, NA18873, NA18155, NA18138, NA19430, NA18968, NA18670, NA12890, NA21487, NA18623, NA19065, NA18740, NA18147, NA18144, NA18612, NA20908, NA19074, NA20898, NA19676, NA18620, NA18997, NA18120, NA18998, NA19237, NA19141, NA20290, NA20853, NA19055, NA20877, NA19249, NA10845, NA18592, NA18153, NA18166, NA19122, NA18561, NA19704, NA18507, NA21597, NA17975, NA18641, NA18917, NA18603, NA12045, NA18545, NA17966, NA19819, NA19057, NA18596, NA21115, NA21741, NA18125, NA21693, NA19190, NA18526, NA19314, NA18962, NA18967, NA19068, NA19076, NA19005, NA18944, NA21405, NA19201, NA20850, NA19762, NA18595, NA19902, NA19119, NA18635, NA19198, NA18619, NA19916, NA18105, NA18942, NA19197, NA18642, NA19088, NA19138, NA19054, NA20336, NA21370, NA19038, NA18611, NA21402, NA18749, NA18970, NA19383, NA18977, NA21512, NA21454, NA19917, NA19371, NA18112, NA19075, NA19385, NA19317, NA19087, NA18131, NA21825, NA20347, NA19002, NA21716, NA19901, NA20884, NA19209, NA21634, NA18975, NA18954, NA18158, NA18150, NA21451, NA19451, NA18638, NA20129, NA18140, NA21599, NA20854, NA18544, NA21480, NA18106, NA19210, NA18613, NA19437, NA12753, NA10836, NA19077, NA19152, NA18529, NA19236, NA20895, NA18939, NA18516, NA19982, NA18685, NA18151, NA18637, NA18132, NA20126, NA19658, NA18910, NA18976, NA18503, NA18682, NA18757, NA19983, NA19221, NA18133, NA18566, NA17977, NA19114, NA19118, NA19000, NA19449, NA17967, NA12249, NA18946, NA12827, NA12264, NA12817, NA10852, NA19225, NA21583, NA19160, NA18536, NA19436, NA18576, NA19035, NA18546, NA18608, NA18978, NA21314, NA19183, NA19918, NA21719, NA19321, NA19108, NA18961, NA18543, NA18559, NA17962, NA21527, NA19435, NA19174, NA19380, NA21733, NA19439, NA21615, NA18643, NA21094, NA21513, NA18911, NA18594, NA21379, NA19109, NA19248, NA21088, NA19438, NA21404, NA20582, NA19060, NA18987, NA19828, NA19713, NA18994, NA18500, NA18506, NA21614, NA21486, NA19096, NA18854, NA17988, NA21455, NA21312, NA20528, NA18696, NA20128, NA18852, NA18505, NA18511, NA21514, NA20363, NA18622, NA19153, NA21333
Known GenesTP63
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)esv2422067
Frequency
Sample Size1184
Observed Gain0
Observed Loss402
Observed Complex0
Frequencyn/a


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