A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8627



Internal ID9630670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:89025978..89192486hg38UCSC Ensembl
Innerchr13:89678232..89844740hg19UCSC Ensembl
Innerchr13:88476233..88642741hg18UCSC Ensembl
Innerchr13:88476233..88642741hg17UCSC Ensembl
Cytoband13q31.2
Allele length
AssemblyAllele length
hg38166509
hg19166509
hg18166509
hg17166509
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758339
Supporting Variants
SamplesNA19239
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)essv8627
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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