A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275357



Internal ID348263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:127321014..127321014hg38UCSC Ensembl
Outerchr8:127320952..127321306hg38UCSC Ensembl
Innerchr8:128333259..128333259hg19UCSC Ensembl
Outerchr8:128333197..128333551hg19UCSC Ensembl
Innerchr8:128402441..128402441hg18UCSC Ensembl
Outerchr8:128402379..128402733hg18UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg38355
hg19355
hg18355
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585149
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)esv275357
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