A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759079



Internal ID9981224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:103977147..104143644hg38UCSC Ensembl
Innerchr2:104593605..104760102hg19UCSC Ensembl
Innerchr2:103960037..104126534hg18UCSC Ensembl
Innerchr2:104052123..104218620hg17UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg38166498
hg19166498
hg18166498
hg17166498
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2757821
SamplesNA18959
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)esv2759079
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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