A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758781



Internal ID9980926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:10911490..11136077hg38UCSC Ensembl
Innerchr20:10892138..11116725hg19UCSC Ensembl
Innerchr20:10840138..11064725hg18UCSC Ensembl
Innerchr20:10840138..11064725hg17UCSC Ensembl
Cytoband20p12.2
Allele length
AssemblyAllele length
hg38224588
hg19224588
hg18224588
hg17224588
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758513
SamplesNA19145, NA19209, NA19205, NA12239, NA19173, NA18500
Known Genes
MethodBAC aCGH
AnalysisArray images were acquired using an Agilent laser scanner (Agilent Technologies, UK). Fluorescence intensities and log2 ratio values were extracted using Bluefuse software (Bluegnome Ltd).
PlatformAgilent
Comments
ReferenceRedon_et_al_2006
Pubmed ID17122850
Accession Number(s)esv2758781
Frequency
Sample Size270
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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