A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4088



Internal ID9625627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:48195236..48431716hg38UCSC Ensembl
Innerchr12:48589019..48825499hg19UCSC Ensembl
Innerchr12:46875286..47111766hg18UCSC Ensembl
Innerchr12:46875286..47111766hg17UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg38236481
hg19236481
hg18236481
hg17236481
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758307
Supporting Variants
SamplesNA18635
Known GenesH1FNT, OR10AD1, 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)essv4088
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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