A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759141



Internal ID9634600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:38892257..39054607hg38UCSC Ensembl
Innerchr3:38933748..39096098hg19UCSC Ensembl
Innerchr3:38908752..39071102hg18UCSC Ensembl
Innerchr3:38908752..39071102hg17UCSC Ensembl
Cytoband3p22.2
Allele length
AssemblyAllele length
hg38162351
hg19162351
hg18162351
hg17162351
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2757867
SamplesNA18855, NA19192
Known GenesSCN11A, WDR48
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)esv2759141
Frequency
Sample Size270
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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