A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5161433



Internal ID7906147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:108792678..109118360hg38UCSC Ensembl
Innerchr12:109186454..109556165hg19UCSC Ensembl
Innerchr12:107710583..108040548hg18UCSC Ensembl
Innerchr12:107688920..108018885hg17UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg38325683
hg19369712
hg18329966
hg17329966
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422361
Supporting Variants
SamplesND03950
Known GenesALKBH2, DAO, SSH1, SVOP, UNG, USP30, USP30-AS1
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)essv5161433
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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