A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25791962



Internal ID19181487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:75564161..76722558hg38UCSC Ensembl
Innerchr8:76476396..77634794hg19UCSC Ensembl
Innerchr8:76638951..77797349hg18UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg381158398
hg191158399
hg181158399
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891416
Supporting Variants
Samples
Known GenesHNF4G, LINC01111, ZFHX4, ZFHX4-AS1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=208
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25791962
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