A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5161245



Internal ID8252902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:89628365..90147331hg38UCSC Ensembl
Innerchr13:90280619..90799585hg19UCSC Ensembl
Innerchr13:89078620..89597586hg18UCSC Ensembl
Innerchr13:89078620..89597586hg17UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg38518967
hg19518967
hg18518967
hg17518967
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422378
Supporting Variants
SamplesND04531
Known GenesLINC00559
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)essv5161245
Frequency
Sample Size181
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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