A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4819



Internal ID9626439
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:24611022..24901435hg38UCSC Ensembl
Innerchr3:24652513..24942926hg19UCSC Ensembl
Innerchr3:24627517..24917930hg18UCSC Ensembl
Innerchr3:24627517..24917930hg17UCSC Ensembl
Cytoband3p24.2
Allele length
AssemblyAllele length
hg38290414
hg19290414
hg18290414
hg17290414
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757862
Supporting Variants
SamplesNA18620
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)essv4819
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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