A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25787808



Internal ID19182307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:185632..359338hg38UCSC Ensembl
Innerchr9:185632..359338hg19UCSC Ensembl
Innerchr9:175632..349338hg18UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg38173707
hg19173707
hg18173707
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891501
Supporting Variants
Samples
Known GenesC9orf66, DOCK8
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=80
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25787808
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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