A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2757907



Internal ID9979984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:181133808..181288854hg38UCSC Ensembl
Innerchr3:180851596..181006642hg19UCSC Ensembl
Innerchr3:182334290..182489336hg18UCSC Ensembl
Innerchr3:182334298..182489344hg17UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg38155047
hg19155047
hg18155047
hg17155047
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759205
Supporting Variantsessv7568, essv4585, essv15204, essv17345
SamplesNA18524, NA18545, NA18856, NA19094
Known GenesSOX2-OT
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)esv2757907
Frequency
Sample Size270
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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