A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422437



Internal ID1220202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:22198584..23416312hg38UCSC Ensembl
Innerchr13:22772723..23990451hg19UCSC Ensembl
Innerchr13:21670723..22888451hg18UCSC Ensembl
Innerchr13:21670723..22888451hg17UCSC Ensembl
Cytoband13q12.11
Allele length
AssemblyAllele length
hg381217729
hg191217729
hg181217729
hg171217729
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5161249
SamplesND04240
Known GenesBASP1P1, LINC00540, SACS, SGCG
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)esv2422437
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