A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5161551



Internal ID8252824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:95795772..95927147hg38UCSC Ensembl
Innerchr1:96261328..96392703hg19UCSC Ensembl
Innerchr1:96033916..96165291hg18UCSC Ensembl
Innerchr1:95973349..96104724hg17UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg38131376
hg19131376
hg18131376
hg17131376
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422262
Supporting Variants
SamplesND03704
Known Genes
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)essv5161551
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