A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758333



Internal ID9633792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:75747474..75967867hg38UCSC Ensembl
Innerchr13:76321610..76542003hg19UCSC Ensembl
Innerchr13:75219611..75440004hg18UCSC Ensembl
Innerchr13:75219611..75440004hg17UCSC Ensembl
Cytoband13q22.2
Allele length
AssemblyAllele length
hg38220394
hg19220394
hg18220394
hg17220394
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759950
Supporting Variantsessv790, essv18618
SamplesNA18956, NA12234
Known GenesC13orf45, LMO7
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)esv2758333
Frequency
Sample Size270
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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