A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13459



Internal ID9976807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:34178461..34260404hg38UCSC Ensembl
Innerchr5:34178566..34260509hg19UCSC Ensembl
Innerchr5:34214323..34296266hg18UCSC Ensembl
Innerchr5:34214323..34296266hg17UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg3881944
hg1981944
hg1881944
hg1781944
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757994
Supporting Variants
SamplesNA19192
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)essv13459
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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