A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421993



Internal ID8252442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:14722007..14758541hg38UCSC Ensembl
Innerchr18:14722006..14758540hg19UCSC Ensembl
Innerchr18:14712006..14748540hg18UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg3836535
hg1936535
hg1836535
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5115454, essv5088743, essv5033816, essv5079368, essv5046092, essv5155523, essv5141438, essv5140945, essv5025362, essv5003508, essv5093582, essv5155116, essv5111272, essv5006304, essv5084168, essv5046017, essv5151060, essv5050202, essv5090830, essv5043950, essv5014719, essv5053953, essv5135478, essv5072204, essv5061450, essv5031043, essv5059004, essv5054119, essv5128673, essv5081431, essv5073586, essv5062789, essv5004277, essv5102803, essv5106011, essv5092799, essv5135131, essv5055913, essv5151773, essv5035355, essv5113930, essv5006888, essv5019023, essv5156365, essv5111529, essv5028877, essv5151911, essv5081050, essv5055309, essv5035466, essv5121077, essv5076920, essv5100258, essv5104166, essv5013642, essv5022528, essv5057934, essv5055803, essv5138685, essv5134651, essv5012154, essv5067340, essv5077825, essv5086620, essv5109077, essv5053612, essv5110378, essv5079808, essv5079546, essv5118435, essv5095785, essv5154184, essv5039061, essv5153020, essv5045742, essv5099728, essv5046932, essv5099655, essv5047775, essv5122251, essv5137476, essv5039251, essv5087716, essv5024375, essv5043387, essv5090492, essv5069716, essv5017396, essv5072106, essv5059996, essv5025048, essv5097620, essv5130333, essv5104854, essv5131534, essv5149368, essv5015958, essv5012259, essv5110504, essv5027250, essv5089309, essv5145303, essv5112828, essv5035655, essv5067788, essv5091768, essv5049319, essv5034961, essv5028722, essv5158447, essv5152864, essv5083968, essv5153674, essv5125352, essv5127029, essv5057480, essv5082989, essv5098421, essv5011508, essv5022188, essv5116946, essv5121259, essv5005577, essv5135394, essv5135617, essv5063195, essv5139875, essv5073854, essv5068305, essv5098516, essv5133554, essv5051525, essv5019120, essv5160608, essv5144376, essv5081874, essv5147598, essv5027662, essv5024267, essv5042723, essv5019102, essv5149375, essv5144651, essv5067479, essv5149133, essv5046243, essv5138904, essv5106184, essv5076050, essv5039471, essv5098447, essv5109800, essv5139367, essv5109361, essv5076794, essv5109996, essv5093233, essv5035065, essv5147805, essv5111665, essv5121129, essv5119944, essv5091828, essv5089495, essv5100264, essv5009481, essv5090788, essv5149147, essv5118935, essv5142574, essv5119922, essv5039799, essv5042330, essv5137334, essv5131950, essv5100496, essv5062504, essv5032997, essv5038831, essv5054303, essv5048784, essv5071376, essv5030956, essv5066005, essv5156793, essv5101389, essv5057623, essv5087069, essv5077293, essv5107543, essv5097610, essv5157298, essv5071067, essv5034486, essv5143524, essv5044006, essv5098240, essv5046808, essv5042331, essv5019456, essv5027240, essv5013319, essv5089591, essv5062644, essv5136937, essv5056181, essv5098174, essv5082921, essv5141637, essv5045655, essv5021773, essv5053989, essv5005469, essv5007524, essv5130994, essv5109601, essv5021779, essv5003912, essv5103087, essv5002488, essv5111372, essv5065631, essv5032654, essv5080368, essv5063242, essv5145880, essv5014448, essv5084732, essv5035189, essv5108382, essv5021352, essv5089732, essv5052720, essv5062710, essv5138012, essv5016798, essv5069208, essv5120128, essv5084917, essv5070943, essv5110505, essv5003231, essv5046369, essv5062330, essv5097662
SamplesNA19701, NA21683, NA18647, NA19399, NA21099, NA21100, NA11931, NA18979, NA20816, NA18999, NA21367, NA17990, NA20332, NA18124, NA20517, NA19443, NA18152, NA20359, NA12750, NA20894, NA18627, NA17974, NA19171, NA18940, NA21378, NA10854, NA20795, NA18558, NA18618, NA21479, NA18582, NA20768, NA19457, NA21493, NA20287, NA21365, NA21391, NA18136, NA20518, NA07014, NA19215, NA19238, NA18689, NA17993, NA18154, NA18990, NA21357, NA10839, NA18102, NA21387, NA19985, NA21105, NA18129, NA18645, NA21415, NA18605, NA17976, NA21575, NA19070, NA19056, NA19403, NA18674, NA12878, NA20885, NA20521, NA20883, NA21300, NA18871, NA18948, NA18534, NA18981, NA19208, NA18548, NA18537, NA18626, NA18875, NA17999, NA11893, NA18156, NA11840, NA12056, NA18122, NA20856, NA18532, NA06989, NA12145, NA12778, NA18858, NA20851, NA18146, NA19309, NA19390, NA19115, NA19712, NA21576, NA20815, NA19072, NA18913, NA21123, NA20527, NA21718, NA19311, NA17970, NA18943, NA18610, NA19778, NA20888, NA17995, NA18501, NA18631, NA21090, NA18134, NA19474, NA20852, NA20289, NA20786, NA18873, NA19770, NA18155, NA18138, NA18872, NA21363, NA18968, NA12006, NA21487, NA18740, NA18144, NA20908, NA20754, NA19431, NA18143, NA21097, NA18157, NA21477, NA21383, NA19794, NA11995, NA18153, NA12767, NA18166, NA18561, NA18545, NA17966, NA21723, NA21741, NA20808, NA21693, NA18962, NA12413, NA12341, NA20846, NA19374, NA19746, NA19381, NA19076, NA20796, NA18944, NA18550, NA18860, NA18619, NA12891, NA18942, NA19088, NA19054, NA20288, NA18964, NA21510, NA20910, NA19038, NA19383, NA20819, NA18977, NA19317, NA18131, NA20869, NA19002, NA21716, NA18640, NA18973, NA18150, NA21494, NA20129, NA18614, NA12335, NA19210, NA12342, NA20505, NA18956, NA20895, NA18939, NA19982, NA21439, NA18151, NA21098, NA19097, NA19776, NA21116, NA18757, NA18133, NA19449, NA20859, NA19113, NA19772, NA18135, NA19225, NA20828, NA19095, NA20542, NA18546, NA21143, NA20522, NA19206, NA18909, NA18543, NA18559, NA17962, NA10861, NA21094, NA19085, NA18911, NA20341, NA20333, NA19078, NA12740, NA20582, NA19173, NA19713, NA18994, NA21101, NA17987, NA21486, NA19096, NA19213, NA18552, NA21389, NA21385, NA18505, NA17981, NA19224, NA18488, NA21440, NA19046, NA10864, NA18622, NA18562
Known GenesANKRD30B
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)esv2421993
Frequency
Sample Size1184
Observed Gain245
Observed Loss0
Observed Complex0
Frequencyn/a


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