A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5161331



Internal ID8252932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:63384747..63623277hg38UCSC Ensembl
Innerchr12:63778527..64017057hg19UCSC Ensembl
Innerchr12:62064794..62303324hg18UCSC Ensembl
Innerchr12:62064794..62303324hg17UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg38238531
hg19238531
hg18238531
hg17238531
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422401
Supporting Variants
SamplesND05052
Known GenesDPY19L2
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)essv5161331
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer