A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788993



Internal ID18833170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:68918451..69064522hg38UCSC Ensembl
Innerchr9:71533367..71679438hg19UCSC Ensembl
Innerchr9:70723187..70869258hg18UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg38146072
hg19146072
hg18146072
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=36
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788993
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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