A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5161452



Internal ID8252718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:37710072..38676932hg38UCSC Ensembl
Innerchr12:38103874..39070734hg19UCSC Ensembl
Innerchr12:36390141..37357001hg18UCSC Ensembl
Innerchr12:36390141..37357001hg17UCSC Ensembl
Cytoband12q11
Allele length
AssemblyAllele length
hg38966861
hg19966861
hg18966861
hg17966861
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422488
Supporting Variants
SamplesND01678
Known GenesALG10B, CPNE8
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)essv5161452
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