A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275555



Internal ID1775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:90807364..90807873hg38UCSC Ensembl
Outerchr9:90803717..90808169hg38UCSC Ensembl
Innerchr9:93569646..93570155hg19UCSC Ensembl
Outerchr9:93565999..93570451hg19UCSC Ensembl
Innerchr9:92609467..92609976hg18UCSC Ensembl
Outerchr9:92605820..92610272hg18UCSC Ensembl
Cytoband9q22.2
Allele length
AssemblyAllele length
hg384453
hg194453
hg184453
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2586125, essv2585996
Samples
Known GenesSYK
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275555
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