A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25789170



Internal ID19174658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:128991970..129051725hg38UCSC Ensembl
Innerchr8:130004216..130063971hg19UCSC Ensembl
Innerchr8:130073398..130133153hg18UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg3859756
hg1959756
hg1859756
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891482
Supporting Variants
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=17
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25789170
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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