A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788860



Internal ID18816220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:68918451..69109210hg38UCSC Ensembl
Innerchr9:71533367..71724126hg19UCSC Ensembl
Innerchr9:70723187..70913946hg18UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg38190760
hg19190760
hg18190760
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=52
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788860
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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