A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3891365



Internal ID18839075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:17979580..18073263hg38UCSC Ensembl
Outerchr8:17979580..18073263hg38UCSC Ensembl
Innerchr8:17837089..17930772hg19UCSC Ensembl
Outerchr8:17837089..17930772hg19UCSC Ensembl
Innerchr8:17881369..17975052hg18UCSC Ensembl
Outerchr8:17881369..17975052hg18UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3893684
hg1993684
hg1893684
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25793038
Samples
Known GenesASAH1, PCM1
MethodSNP array
Analysis
PlatformIllumina HumanHap 550
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3891365
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