A curated catalogue of human genomic structural variation




Variant Details

Variant: essv19278



Internal ID9955315
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 gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758025
Supporting Variants
SamplesNA10838
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)essv19278
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer