A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25787934



Internal ID19160519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:185632..367030hg38UCSC Ensembl
Innerchr9:185632..367030hg19UCSC Ensembl
Innerchr9:175632..357030hg18UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg38181399
hg19181399
hg18181399
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=86
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25787934
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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