A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585740



Internal ID633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:8909449..8933604hg38UCSC Ensembl
Outerchr8:8909371..8933634hg38UCSC Ensembl
Innerchr8:8766959..8791114hg19UCSC Ensembl
Outerchr8:8766881..8791144hg19UCSC Ensembl
Innerchr8:8804369..8828524hg18UCSC Ensembl
Outerchr8:8804291..8828554hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3824264
hg1924264
hg1824264
Variant TypeCNV loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275541
Supporting Variants
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)essv2585740
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