A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275103



Internal ID348009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:75240736..75240852hg38UCSC Ensembl
Outerchr9:75240245..75245496hg38UCSC Ensembl
Innerchr9:77855652..77855768hg19UCSC Ensembl
Outerchr9:77855161..77860412hg19UCSC Ensembl
Innerchr9:77045472..77045588hg18UCSC Ensembl
Outerchr9:77044981..77050232hg18UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg385252
hg195252
hg185252
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585556, essv2586103
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)esv275103
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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