A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12396



Internal ID9978671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:161117736..161267212hg38UCSC Ensembl
Innerchr5:160544743..160694219hg19UCSC Ensembl
Innerchr5:160477321..160626797hg18UCSC Ensembl
Innerchr5:160477321..160626797hg17UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg38149477
hg19149477
hg18149477
hg17149477
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758025
Supporting Variants
SamplesNA19238
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)essv12396
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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