A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759211



Internal ID9634670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:193078588..193249945hg38UCSC Ensembl
Innerchr3:192796377..192967734hg19UCSC Ensembl
Innerchr3:194279071..194450428hg18UCSC Ensembl
Innerchr3:194279079..194450436hg17UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38171358
hg19171358
hg18171358
hg17171358
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2757911
SamplesNA12762
Known GenesHRASLS, MGC2889
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)esv2759211
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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