A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25791405



Internal ID19171529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:13293446..13473131hg38UCSC Ensembl
Innerchr8:13150955..13330640hg19UCSC Ensembl
Innerchr8:13195326..13375011hg18UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38179686
hg19179686
hg18179686
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891343
Supporting Variants
Samples
Known GenesDLC1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=101
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25791405
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