A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8792



Internal ID9630853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:197448948..197608410hg38UCSC Ensembl
Innerchr3:197175819..197335281hg19UCSC Ensembl
Innerchr3:198660216..198819678hg18UCSC Ensembl
Innerchr3:198664129..198823591hg17UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38159463
hg19159463
hg18159463
hg17159463
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2757914
Supporting Variants
SamplesNA18508
Known GenesBDH1
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)essv8792
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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