A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585477



Internal ID347056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:124420448..124420659hg38UCSC Ensembl
Outerchr8:124418519..124425374hg38UCSC Ensembl
Innerchr8:125432689..125432900hg19UCSC Ensembl
Outerchr8:125430760..125437615hg19UCSC Ensembl
Innerchr8:125501870..125502081hg18UCSC Ensembl
Outerchr8:125499941..125506796hg18UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg386856
hg196856
hg186856
Variant TypeCNV loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275091
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)essv2585477
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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