A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759134



Internal ID9981279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:22036401..22215377hg38UCSC Ensembl
Innerchr3:22077893..22256869hg19UCSC Ensembl
Innerchr3:22052897..22231873hg18UCSC Ensembl
Innerchr3:22052897..22231873hg17UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg38178977
hg19178977
hg18178977
hg17178977
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2757861
SamplesNA18592, NA18526, NA18571, NA19159, NA18532, NA18608, NA18965
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)esv2759134
Frequency
Sample Size270
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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