A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275086



Internal ID347992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:165620190..165622438hg38UCSC Ensembl
Outerchr6:165618376..165623793hg38UCSC Ensembl
Innerchr6:166033678..166035926hg19UCSC Ensembl
Outerchr6:166031864..166037281hg19UCSC Ensembl
Innerchr6:165953668..165955916hg18UCSC Ensembl
Outerchr6:165951854..165957271hg18UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg385418
hg195418
hg185418
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585921
Samples
Known GenesPDE10A
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275086
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