A curated catalogue of human genomic structural variation




Variant Details

Variant: essv18623



Internal ID9958627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:26023678..26177671hg38UCSC Ensembl
Innerchr3:26065169..26219162hg19UCSC Ensembl
Innerchr3:26040173..26194166hg18UCSC Ensembl
Innerchr3:26040173..26194166hg17UCSC Ensembl
Cytoband3p24.2
Allele length
AssemblyAllele length
hg38153994
hg19153994
hg18153994
hg17153994
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757863
Supporting Variants
SamplesNA12234
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)essv18623
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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