A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788271



Internal ID19179438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:112542..355793hg38UCSC Ensembl
Innerchr9:112542..355793hg19UCSC Ensembl
Innerchr9:102542..345793hg18UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg38243252
hg19243252
hg18243252
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891501
Supporting Variants
Samples
Known GenesC9orf66, CBWD1, DOCK8, FOXD4
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=78
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788271
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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