A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2421904

Internal ID7905666
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:133429369..133563944hg38UCSC Ensembl
Innerchr10:135242873..135377448hg19UCSC Ensembl
Innerchr10:135092863..135227438hg18UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5056497, essv5051627, essv5031241, essv5053620, essv5046390, essv5035201, essv5118532, essv5016953, essv5053734, essv5160946, essv5044404, essv5014455, essv5025515, essv5086824, essv5076313, essv5071224, essv5074322, essv5093807, essv5140076, essv5150262, essv5065619, essv5134256, essv5100634, essv5030077, essv5073144, essv5096835, essv5108109, essv5047110, essv5057330, essv5063103, essv5036437, essv5075477, essv5139421, essv5145954, essv5051999, essv5016832, essv5046037, essv5033808, essv5057218, essv5142797, essv5065760, essv5133502, essv5100661, essv5047609, essv5038685, essv5057449, essv5148178, essv5107796, essv5130687, essv5130820, essv5114561, essv5150826, essv5158608, essv5043880, essv5040889, essv5072443, essv5039117, essv5130682, essv5143985, essv5113633, essv5090049, essv5043685, essv5095118, essv5018913, essv5002311, essv5033938, essv5099885, essv5118995, essv5103169, essv5123116, essv5128547, essv5046817, essv5092603, essv5024598, essv5081598, essv5125722, essv5008342, essv5146363, essv5072983, essv5116420, essv5125735, essv5032213, essv5082485, essv5080432, essv5012132, essv5144060, essv5114514, essv5020853, essv5019876, essv5139191, essv5079816, essv5147396, essv5113851, essv5131188, essv5118612, essv5071097, essv5066182, essv5042779, essv5028800, essv5159729, essv5109373, essv5153921, essv5142339, essv5058344, essv5008059, essv5105869, essv5115800, essv5086818
SamplesNA19183, NA12489, NA19194, NA19445, NA21741, NA21438, NA21723, NA21524, NA21578, NA21693, NA21320, NA18501, NA19311, NA19060, NA19191, NA18948, NA18516, NA19186, NA21423, NA19718, NA19184, NA20292, NA19210, NA21425, NA19915, NA21312, NA21361, NA19701, NA20322, NA18505, NA12287, NA19147, NA19226, NA19143, NA21314, NA20284, NA19914, NA21309, NA19314, NA20356, NA18854, NA19199, NA19309, NA20811, NA19660, NA19443, NA19088, NA19397, NA21587, NA19908, NA20765, NA21522, NA20282, NA19181, NA12234, NA19919, NA20341, NA21491, NA19153, NA18515, NA18645, NA19702, NA21525, NA12892, NA20291, NA21311, NA17972, NA19373, NA19716, NA20795, NA19119, NA21739, NA21308, NA19154, NA19901, NA12872, NA21485, NA19328, NA21486, NA20358, NA20357, NA19394, NA19128, NA21733, NA18631, NA21360, NA19132, NA19434, NA21362, NA21366, NA17976, NA19225, NA19224, NA21436, NA20288, NA19198, NA19470, NA21356, NA18108, NA19095, NA19130, NA19171, NA18853, NA19204, NA18935, NA19385, NA20279, NA21494
Known GenesCYP2E1, SCART1, SYCE1
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
Pubmed ID20811451
Accession Number(s)esv2421904
Sample Size1184
Observed Gain108
Observed Loss0
Observed Complex0

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