A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788842



Internal ID18814025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:68918451..69072734hg38UCSC Ensembl
Innerchr9:71533367..71687650hg19UCSC Ensembl
Innerchr9:70723187..70877470hg18UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg38154284
hg19154284
hg18154284
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891678
Supporting Variants
Samples
Known GenesFXN, PIP5K1B, PRKACG
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=39
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788842
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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