A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275252



Internal ID348158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:54552423..54553678hg38UCSC Ensembl
Outerchr8:54552333..54557985hg38UCSC Ensembl
Innerchr8:55464983..55466238hg19UCSC Ensembl
Outerchr8:55464893..55470545hg19UCSC Ensembl
Innerchr8:55627536..55628791hg18UCSC Ensembl
Outerchr8:55627446..55633098hg18UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg385653
hg195653
hg185653
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2586028
Samples
Known Genes
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275252
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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