A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421391



Internal ID7905153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:54031269..54042112hg38UCSC Ensembl
Innerchr20:52647808..52658651hg19UCSC Ensembl
Innerchr20:52081215..52092058hg18UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3810844
hg1910844
hg1810844
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5033165, essv5132415, essv5160615, essv5021232, essv5028080, essv5093329, essv5002494, essv5147736, essv5092877, essv5108469, essv5146817, essv5054683, essv5100730, essv5092349, essv5003039, essv5071528, essv5136815, essv5050454, essv5118962, essv5100919, essv5039386, essv5142790, essv5056307, essv5154138, essv5032937, essv5102062, essv5026112, essv5040492, essv5095975, essv5045435, essv5092049, essv5027659, essv5152072, essv5037214, essv5095254, essv5060596, essv5059542, essv5092681, essv5120338, essv5012485, essv5124483, essv5034363, essv5081127, essv5157926, essv5094479, essv5108311, essv5041666, essv5152508, essv5053754, essv5109118, essv5156505, essv5083096, essv5153247, essv5146295, essv5047361, essv5033168, essv5019463
SamplesNA20887, NA19796, NA21142, NA21441, NA20506, NA21317, NA21320, NA20531, NA21600, NA19186, NA06993, NA19685, NA19686, NA19682, NA19467, NA20770, NA20515, NA19662, NA12383, NA19828, NA20783, NA21523, NA21408, NA21115, NA19759, NA21525, NA21311, NA21316, NA12275, NA21379, NA21141, NA19705, NA12057, NA19704, NA20828, NA20815, NA20582, NA10836, NA21336, NA12891, NA20534, NA20756, NA19794, NA06991, NA21601, NA12375, NA19683, NA20850, NA19818, NA12878, NA21117, NA12248, NA20524, NA19185, NA19661, NA11917, NA21526
Known GenesBCAS1
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)esv2421391
Frequency
Sample Size1184
Observed Gain0
Observed Loss57
Observed Complex0
Frequencyn/a


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