A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15133



Internal ID9612707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:100279705..100510551hg38UCSC Ensembl
Innerchr5:99615409..99846255hg19UCSC Ensembl
Innerchr5:99643308..99874154hg18UCSC Ensembl
Innerchr5:99643308..99874154hg17UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg38230847
hg19230847
hg18230847
hg17230847
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758006
Supporting Variants
SamplesNA19129
Known GenesLOC100133050
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)essv15133
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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