A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25780816



Internal ID19173241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:16235147..16439711hg38UCSC Ensembl
Innerchr8:16092656..16297220hg19UCSC Ensembl
Innerchr8:16137027..16341591hg18UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38204565
hg19204565
hg18204565
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891358
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=50
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25780816
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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