A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421614



Internal ID8252062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:5763793..5788247hg38UCSC Ensembl
Innerchr11:5785023..5809477hg19UCSC Ensembl
Innerchr11:5741599..5766053hg18UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3824455
hg1924455
hg1824455
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5161113, essv5149336, essv5125146, essv5113896, essv5157977, essv5034148, essv5048135, essv5127372, essv5114253, essv5042366, essv5134183, essv5088322, essv5034521, essv5123228, essv5055804, essv5111093, essv5147975, essv5127410, essv5131845, essv5017278, essv5028073, essv5129370, essv5118437, essv5140717, essv5120773, essv5144427, essv5046865, essv5044052, essv5006855, essv5058142, essv5014886, essv5062227, essv5127299, essv5002452, essv5077249, essv5112520, essv5146026, essv5139326, essv5149347, essv5100137, essv5025737, essv5128091, essv5095817, essv5156631, essv5135911, essv5127440, essv5026199, essv5059895, essv5151600, essv5072574, essv5135053, essv5115739, essv5099178, essv5127888, essv5021680, essv5158314, essv5096668, essv5037078, essv5154170, essv5147951, essv5062133, essv5019828, essv5072178, essv5006721, essv5026642, essv5019813, essv5015323, essv5061157, essv5022168, essv5049718, essv5049287, essv5082038, essv5099103, essv5095754, essv5067415, essv5009126, essv5123804, essv5066154, essv5023831, essv5095018, essv5101213, essv5060736, essv5104165, essv5138590, essv5019092, essv5039995, essv5121986, essv5028834, essv5115310, essv5078712, essv5125953, essv5010089, essv5123875, essv5065706, essv5126120, essv5061898, essv5017130, essv5124520, essv5025777, essv5107865, essv5028671, essv5128191, essv5127945, essv5085107, essv5096829, essv5082215, essv5121991, essv5060389, essv5144072, essv5072840, essv5032136, essv5054765, essv5141587, essv5114784, essv5051541, essv5155972, essv5144061, essv5087025, essv5145219, essv5124311, essv5092494, essv5039186, essv5017695, essv5014862, essv5117002, essv5080854, essv5059247, essv5064541, essv5041977, essv5035637, essv5151929, essv5041479, essv5101360, essv5091302, essv5117826, essv5106635, essv5026380, essv5018082, essv5125629, essv5025374, essv5154599, essv5067179, essv5100083, essv5136965, essv5127314, essv5091336, essv5128860, essv5020624, essv5125613, essv5065626, essv5111362, essv5050942, essv5103488, essv5051787, essv5003825, essv5088976, essv5015614, essv5020380, essv5063889, essv5113290, essv5057630, essv5119551, essv5058690, essv5147065, essv5095276, essv5156833, essv5144817, essv5108112, essv5159927, essv5121636, essv5114316, essv5034407, essv5025692, essv5154839, essv5127039, essv5156390, essv5069970, essv5072338, essv5063817, essv5110975, essv5136772, essv5007744, essv5149156, essv5130589, essv5017679, essv5055122, essv5052896, essv5085090, essv5084708, essv5125256, essv5135257, essv5132710, essv5105082, essv5155687, essv5098042, essv5151317, essv5066810, essv5009811, essv5130805, essv5039068, essv5103368, essv5022490, essv5133418, essv5147141, essv5059467, essv5038312, essv5098991, essv5141244, essv5153907, essv5059001, essv5075416, essv5146972, essv5094347, essv5053146, essv5005536, essv5039802, essv5015779, essv5092896, essv5141432, essv5060263, essv5027388, essv5111970, essv5035925, essv5025327, essv5053756, essv5154680, essv5042570, essv5050881, essv5098005, essv5105532, essv5015140, essv5066753, essv5053972, essv5011729, essv5103918, essv5060452, essv5089974, essv5030105, essv5075911, essv5145944, essv5020159, essv5144359, essv5007679, essv5082608, essv5139365, essv5123839, essv5041106, essv5047651, essv5110541, essv5107679, essv5058567, essv5056854, essv5003091, essv5110873, essv5091527, essv5088921, essv5083288, essv5116788, essv5086733, essv5075866, essv5075220, essv5005683, essv5109993, essv5084404, essv5075270, essv5126092, essv5118778, essv5042682, essv5145271, essv5009193, essv5051096, essv5027793, essv5126229, essv5136509, essv5050263, essv5028067, essv5160174, essv5109683, essv5118142, essv5131685, essv5040039, essv5099777, essv5008960, essv5109160, essv5120712, essv5081257, essv5025841, essv5113838, essv5086521, essv5005664, essv5043101, essv5047615, essv5029720, essv5013550, essv5090285, essv5052377, essv5135419, essv5001992, essv5082164, essv5141218, essv5078525, essv5034020, essv5144046, essv5097165, essv5010644, essv5153834, essv5133584, essv5095971, essv5030259, essv5007137, essv5034532, essv5007651, essv5082559, essv5090351, essv5074058, essv5078692, essv5078609, essv5136654, essv5095458, essv5053101, essv5152173, essv5141719, essv5148427, essv5093222, essv5078222, essv5127003, essv5041288, essv5074007, essv5037793, essv5131707, essv5106126, essv5148494, essv5022522, essv5099359, essv5015487, essv5003335, essv5085563, essv5002580, essv5074041, essv5159989, essv5017620, essv5132649, essv5032968, essv5134412, essv5100667, essv5143601, essv5129571, essv5085416, essv5099925, essv5159435, essv5147034, essv5039150, essv5020708, essv5106568, essv5016454, essv5155098, essv5124750, essv5022415, essv5058652, essv5111258, essv5009455, essv5049935, essv5036939, essv5030918, essv5126475, essv5102319, essv5089373, essv5016263, essv5146320, essv5117567, essv5084046, essv5081063, essv5150390, essv5144127, essv5021508, essv5144640, essv5147745, essv5056656, essv5099971, essv5021455, essv5125258, essv5102532, essv5105644, essv5099402, essv5160230, essv5095653, essv5039492, essv5069633, essv5104594, essv5137585, essv5117753, essv5099099, essv5066851, essv5152353, essv5058320, essv5017855, essv5065542, essv5129174, essv5012986, essv5092471, essv5113303, essv5026236, essv5023681, essv5061657, essv5077368, essv5069735, essv5093941, essv5029546, essv5027020, essv5069322, essv5002387, essv5097683, essv5156746, essv5093129, essv5014445, essv5124404, essv5043708, essv5147716, essv5136878, essv5075362, essv5046337, essv5035617, essv5079737, essv5051649, essv5101920, essv5143575, essv5094530, essv5129729, essv5091776, essv5105065, essv5062957, essv5148208, essv5070255, essv5008486, essv5053490, essv5130748, essv5113523, essv5062049, essv5104477, essv5005330, essv5135818, essv5050552, essv5110285, essv5146164, essv5080723, essv5108735, essv5133308, essv5059341, essv5056341, essv5097711, essv5096792, essv5116321, essv5100331, essv5092480, essv5043988, essv5082005, essv5051632, essv5123571, essv5032319, essv5051596, essv5099808, essv5046188, essv5141019, essv5082150, essv5071705, essv5006082, essv5091641, essv5012572, essv5016586, essv5014201, essv5133541, essv5149199, essv5144521, essv5060707, essv5051557, essv5090323, essv5065537, essv5034904, essv5073252, essv5077909, essv5016983, essv5039342, essv5112308, essv5089941, essv5036990, essv5054428, essv5152801, essv5084959, essv5081118, essv5051683, essv5068201, essv5017033
SamplesNA19058, NA20529, NA21488, NA20891, NA18621, NA19664, NA18647, NA20300, NA21099, NA21100, NA12843, NA11931, NA12751, NA21489, NA17990, NA12146, NA19377, NA21475, NA21408, NA21738, NA21635, NA12832, NA18152, NA12750, NA20894, NA21776, NA21434, NA12813, NA19446, NA19192, NA18995, NA19678, NA18107, NA20756, NA20911, NA20795, NA21297, NA19650, NA12762, NA17983, NA21613, NA19079, NA18136, NA20775, NA18160, NA19172, NA10850, NA19226, NA19036, NA19239, NA21357, NA21400, NA20757, NA19985, NA20360, NA18951, NA21307, NA20892, NA18605, NA12760, NA21414, NA21587, NA19070, NA21448, NA21596, NA19175, NA18674, NA18118, NA20521, NA19184, NA20760, NA19176, NA20883, NA12718, NA21631, NA20875, NA20519, NA18572, NA21617, NA21438, NA12234, NA20876, NA17979, NA20903, NA19142, NA21086, NA18875, NA19181, NA11840, NA19781, NA18122, NA06989, NA19009, NA19682, NA19132, NA12778, NA21309, NA19625, NA21316, NA20851, NA18114, NA19652, NA19440, NA21144, NA19434, NA18564, NA12057, NA18628, NA21528, NA21336, NA19444, NA20520, NA21768, NA19010, NA19428, NA21388, NA12347, NA19778, NA19182, NA20888, NA19662, NA20897, NA19117, NA19705, NA19779, NA18609, NA18873, NA19770, NA21384, NA19129, NA21487, NA21491, NA18147, NA10837, NA19429, NA18577, NA18143, NA18497, NA19237, NA21686, NA18157, NA21477, NA20853, NA19466, NA19249, NA11995, NA12767, NA20899, NA18166, NA21476, NA19763, NA18507, NA21597, NA18599, NA17975, NA18641, NA21115, NA18962, NA12413, NA12341, NA19746, NA19660, NA21371, NA12812, NA20861, NA18489, NA20890, NA21526, NA20900, NA18105, NA19197, NA20540, NA19313, NA19038, NA12761, NA12282, NA19651, NA21382, NA21512, NA20340, NA19371, NA19075, NA18617, NA19471, NA12889, NA19159, NA20884, NA19189, NA21601, NA21362, NA19665, NA12828, NA18158, NA18638, NA20818, NA19247, NA18613, NA20787, NA12753, NA19077, NA10863, NA19462, NA12872, NA21439, NA21098, NA18976, NA19097, NA20344, NA19983, NA19221, NA07045, NA18518, NA18499, NA18946, NA19772, NA12239, NA18853, NA19225, NA06985, NA20828, NA21583, NA19160, NA21142, NA19659, NA18576, NA19183, NA20801, NA06997, NA21616, NA21733, NA21517, NA20504, NA10861, NA20803, NA20341, NA20333, NA19818, NA19759, NA19143, NA19248, NA19472, NA12749, NA19828, NA19713, NA20807, NA21486, NA19726, NA18149, NA18972, NA18552, NA21385, NA21303, NA19146, NA20322, NA20907, NA21440, NA19046, NA20509, NA12739, NA19394, NA19701, NA20761, NA12842, NA19703, NA21423, NA20766, NA12286, NA20508, NA12273, NA20783, NA18855, NA18935, NA21352, NA18639, NA20332, NA18124, NA18959, NA20517, NA21360, NA19443, NA18510, NA18602, NA21739, NA19107, NA17974, NA19373, NA18940, NA18519, NA10846, NA10854, NA21473, NA19724, NA21381, NA21365, NA21391, NA19130, NA11930, NA19199, NA20518, NA21650, NA21529, NA19372, NA11994, NA19235, NA18748, NA19128, NA18966, NA19722, NA20889, NA18990, NA20342, NA20127, NA19027, NA20753, NA21415, NA17998, NA21313, NA12752, NA19403, NA20885, NA19161, NA18933, NA18485, NA19455, NA12877, NA18871, NA19103, NA18534, NA21366, NA19202, NA20525, NA19654, NA21308, NA20866, NA17999, NA12056, NA19761, NA18963, NA12144, NA18127, NA18570, NA18632, NA20276, NA19747, NA21576, NA20815, NA12272, NA20530, NA20527, NA17989, NA19679, NA19311, NA20544, NA18610, NA17982, NA18501, NA20847, NA21090, NA19178, NA20871, NA21102, NA20510, NA18509, NA18155, NA19780, NA18872, NA19900, NA21363, NA20754, NA20350, NA21091, NA18620, NA19141, NA19222, NA20543, NA10845, NA21620, NA21519, NA21436, NA18917, NA19795, NA18486, NA21723, NA19777, NA19057, NA18596, NA18125, NA18870, NA19314, NA12155, NA19396, NA20796, NA19005, NA19201, NA19382, NA21600, NA20850, NA19448, NA19198, NA18619, NA21355, NA21401, NA12283, NA18161, NA19760, NA18611, NA19404, NA19383, NA21611, NA18977, NA19137, NA21632, NA21107, NA21478, NA20343, NA20845, NA21442, NA19456, NA18954, NA21320, NA21451, NA11993, NA21106, NA19714, NA18614, NA21599, NA18544, NA21480, NA19210, NA21318, NA18934, NA21682, NA12003, NA19152, NA18109, NA18529, NA19236, NA20895, NA18685, NA18151, NA18132, NA20506, NA20126, NA19658, NA11839, NA10838, NA21485, NA21441, NA21141, NA21339, NA17967, NA21678, NA21578, NA12264, NA18135, NA19101, NA19095, NA18634, NA20534, NA19675, NA20765, NA19727, NA21314, NA21113, NA19206, NA12716, NA21719, NA21311, NA19435, NA20804, NA21425, NA19773, NA20785, NA21740, NA10840, NA19467, NA20797, NA12874, NA06986, NA18594, NA20357, NA12708, NA12740, NA21088, NA19060, NA21312, NA21389, NA21509, NA20128, NA19755, NA18511, NA12776
Known GenesOR52N1, OR52N5
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)esv2421614
Frequency
Sample Size1184
Observed Gain0
Observed Loss492
Observed Complex0
Frequencyn/a


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