A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422209



Internal ID8252992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:130570650..130714898hg38UCSC Ensembl
Innerchr4:131491805..131636053hg19UCSC Ensembl
Innerchr4:131711255..131855503hg18UCSC Ensembl
Innerchr4:131849410..131993658hg17UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg38144249
hg19144249
hg18144249
hg17144249
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5161393
SamplesND01700
Known Genes
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)esv2422209
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