A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25789829



Internal ID18813353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:85988884..86136762hg38UCSC Ensembl
Innerchr8:87001113..87148991hg19UCSC Ensembl
Innerchr8:87070229..87218107hg18UCSC Ensembl
Cytoband8q21.2
Allele length
AssemblyAllele length
hg38147879
hg19147879
hg18147879
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891432
Supporting Variants
Samples
Known GenesATP6V0D2, PSKH2
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=43
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25789829
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