A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759952



Internal ID9982097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:82563294..82808517hg38UCSC Ensembl
Innerchr13:83137429..83382652hg19UCSC Ensembl
Innerchr13:82035430..82280653hg18UCSC Ensembl
Innerchr13:82035430..82280653hg17UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg38245224
hg19245224
hg18245224
hg17245224
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758335
SamplesNA10847
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)esv2759952
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