A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16032



Internal ID9961602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:18536490..18704596hg38UCSC Ensembl
Innerchr13:19110630..19278736hg19UCSC Ensembl
Innerchr13:18008630..18176736hg18UCSC Ensembl
Innerchr13:18008630..18176736hg17UCSC Ensembl
Cytoband13q11
Allele length
AssemblyAllele length
hg38168107
hg19168107
hg18168107
hg17168107
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758323
Supporting Variants
SamplesNA18501
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)essv16032
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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