A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788600



Internal ID19174327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:48062056..48102977hg38UCSC Ensembl
Innerchr8:48974616..49015537hg19UCSC Ensembl
Innerchr8:49137169..49178090hg18UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg3840922
hg1940922
hg1840922
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891390
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=10
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788600
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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