A curated catalogue of human genomic structural variation




Variant Details

Variant: essv23037



Internal ID9960421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:104148083..104297867hg38UCSC Ensembl
Innerchr5:103483784..103633568hg19UCSC Ensembl
Innerchr5:103511683..103661467hg18UCSC Ensembl
Innerchr5:103511683..103661467hg17UCSC Ensembl
Cytoband5q21.2
Allele length
AssemblyAllele length
hg38149785
hg19149785
hg18149785
hg17149785
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758008
Supporting Variants
SamplesNA12812
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)essv23037
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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