A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25793059



Internal ID18826975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:68939243..69246082hg38UCSC Ensembl
Innerchr9:71554159..71860998hg19UCSC Ensembl
Innerchr9:70743979..71050818hg18UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg38306840
hg19306840
hg18306840
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891679
Supporting Variants
Samples
Known GenesFXN, PIP5K1B, PRKACG, TJP2
MethodSNP array
Analysis
PlatformIllumina HumanHap 550
CommentsNumber of probes=71
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25793059
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer