A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2758307



Internal ID9633766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:48035919..48431716hg38UCSC Ensembl
Innerchr12:48429702..48825499hg19UCSC Ensembl
Innerchr12:46715969..47111766hg18UCSC Ensembl
Innerchr12:46715969..47111766hg17UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg38395798
hg19395798
hg18395798
hg17395798
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsesv2759898
Supporting Variantsessv4088, essv5418
SamplesNA18563, NA18635
Known GenesASB8, C12orf68, H1FNT, MIR6505, OR10AD1, PFKM, SENP1, ZNF641
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)esv2758307
Frequency
Sample Size270
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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