A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788959



Internal ID18824293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:68918451..69144626hg38UCSC Ensembl
Innerchr9:71533367..71759542hg19UCSC Ensembl
Innerchr9:70723187..70949362hg18UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg38226176
hg19226176
hg18226176
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891678
Supporting Variants
Samples
Known GenesFXN, PIP5K1B, PRKACG, TJP2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=55
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788959
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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