A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422128



Internal ID7905890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:86054941..86058791hg38UCSC Ensembl
Innerchr4:86976094..86979944hg19UCSC Ensembl
Innerchr4:87195118..87198968hg18UCSC Ensembl
Cytoband4q21.3
Allele length
AssemblyAllele length
hg383851
hg193851
hg183851
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5044995, essv5121220, essv5025834, essv5117187, essv5023119, essv5057153, essv5143064, essv5046934, essv5116515, essv5118329, essv5159568, essv5110720, essv5016187, essv5027172, essv5154336, essv5040011, essv5037538, essv5061658, essv5103544, essv5031834, essv5105187, essv5160634, essv5042389, essv5095549, essv5156619, essv5157978, essv5104035, essv5029966, essv5022469, essv5064875, essv5063053, essv5142789, essv5041939, essv5017261, essv5141477, essv5117596, essv5122589, essv5114358, essv5097700, essv5032195, essv5119910, essv5079503, essv5087455, essv5023267, essv5019780, essv5095454, essv5147749, essv5034812, essv5067078, essv5032887, essv5132194, essv5061723, essv5125766, essv5045476, essv5102794, essv5122569, essv5013880, essv5093937, essv5063504, essv5012900, essv5109102, essv5135603, essv5068139, essv5100551, essv5141948, essv5100020, essv5050622, essv5057258, essv5108101, essv5030286, essv5136501, essv5134097, essv5068849, essv5049569, essv5146389, essv5044533, essv5097801, essv5135970, essv5146967, essv5071658, essv5086017, essv5083191, essv5011550, essv5072468, essv5141400, essv5049934, essv5160611, essv5117299, essv5146864, essv5042225, essv5021085, essv5068808, essv5078530, essv5160348, essv5018621, essv5112162, essv5156237, essv5064479, essv5009847, essv5138661, essv5153730, essv5086426, essv5157365, essv5079442, essv5135190, essv5146526, essv5042355, essv5011259, essv5147495, essv5095428, essv5158020, essv5134147, essv5071012, essv5103687, essv5017529, essv5002236, essv5106690, essv5013610, essv5137093, essv5034593, essv5133878, essv5131525, essv5132450, essv5014325, essv5026649, essv5032452, essv5138696, essv5062355, essv5007020, essv5075684, essv5152577, essv5099951, essv5154591, essv5046949, essv5048945, essv5076729, essv5125046, essv5019852, essv5017886, essv5061288, essv5100922, essv5066392, essv5077753, essv5112855, essv5119182, essv5078128, essv5097763, essv5091693
SamplesNA19142, NA20281, NA11881, NA19248, NA21520, NA12154, NA18863, NA19194, NA19436, NA12750, NA21441, NA19044, NA19192, NA21524, NA19404, NA12801, NA21320, NA21517, NA19174, NA20343, NA19149, NA21685, NA19191, NA10847, NA21487, NA19334, NA21300, NA12828, NA19109, NA20342, NA21479, NA12005, NA18489, NA19379, NA18860, NA20588, NA12776, NA21454, NA19678, NA19915, NA21457, NA19108, NA21295, NA18488, NA19151, NA18506, NA18862, NA19226, NA20586, NA19117, NA21106, NA19140, NA21314, NA19463, NA19914, NA12763, NA19982, NA21309, NA21577, NA18508, NA19239, NA12753, NA21488, NA21716, NA21421, NA07357, NA19900, NA18930, NA20807, NA19096, NA21582, NA10852, NA18497, NA21523, NA18485, NA21352, NA19835, NA18916, NA21408, NA19679, NA20341, NA19324, NA19190, NA19313, NA21525, NA21311, NA19206, NA18498, NA18486, NA18510, NA21689, NA21455, NA19098, NA21308, NA19901, NA12057, NA19836, NA21485, NA21381, NA21619, NA18858, NA20347, NA21364, NA20828, NA21784, NA20582, NA21475, NA19159, NA19382, NA21336, NA19318, NA20297, NA21486, NA12891, NA12146, NA21632, NA20332, NA12812, NA18857, NA21509, NA19123, NA19097, NA19132, NA21383, NA21480, NA19446, NA21576, NA12878, NA11830, NA19327, NA12546, NA18499, NA12817, NA19118, NA19130, NA19240, NA20768, NA19473, NA20806, NA19185, NA20517, NA20538, NA20301, NA19121, NA21768, NA19439, NA21526, NA21617
Known GenesMAPK10
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)esv2422128
Frequency
Sample Size1184
Observed Gain0
Observed Loss148
Observed Complex0
Frequencyn/a


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