A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759319



Internal ID9981464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:5446985..5764507hg38UCSC Ensembl
Innerchr5:5447098..5764620hg19UCSC Ensembl
Innerchr5:5500098..5817620hg18UCSC Ensembl
Innerchr5:5500098..5817620hg17UCSC Ensembl
Cytoband5p15.32
Allele length
AssemblyAllele length
hg38317523
hg19317523
hg18317523
hg17317523
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2757981
SamplesNA12234
Known GenesKIAA0947
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)esv2759319
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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