A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275316



Internal ID1536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:111604531..111610995hg38UCSC Ensembl
Outerchr9:111594087..111612364hg38UCSC Ensembl
Innerchr9:114366811..114373275hg19UCSC Ensembl
Outerchr9:114356367..114374644hg19UCSC Ensembl
Innerchr9:113406632..113413096hg18UCSC Ensembl
Outerchr9:113396188..113414465hg18UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg3818278
hg1918278
hg1818278
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585892, essv2585444
Samples
Known GenesLRRC37A5P, PTGR1
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275316
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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