A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14528



Internal ID9977287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:20334758..20499136hg38UCSC Ensembl
Innerchr3:20376250..20540628hg19UCSC Ensembl
Innerchr3:20351254..20515632hg18UCSC Ensembl
Innerchr3:20351254..20515632hg17UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg38164379
hg19164379
hg18164379
hg17164379
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757860
Supporting Variants
SamplesNA19202
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)essv14528
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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