A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5161396



Internal ID8252893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:37710072..38367845hg38UCSC Ensembl
Innerchr12:38103874..38761647hg19UCSC Ensembl
Innerchr12:36390141..37047914hg18UCSC Ensembl
Innerchr12:36390141..37047914hg17UCSC Ensembl
Cytoband12q11
Allele length
AssemblyAllele length
hg38657774
hg19657774
hg18657774
hg17657774
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422349
Supporting Variants
SamplesND04361
Known GenesALG10B
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)essv5161396
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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