A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3891407



Internal ID18839117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:67058008..67254745hg38UCSC Ensembl
Outerchr8:67058008..67254745hg38UCSC Ensembl
Innerchr8:67970243..68166980hg19UCSC Ensembl
Outerchr8:67970243..68166980hg19UCSC Ensembl
Innerchr8:68132797..68329534hg18UCSC Ensembl
Outerchr8:68132797..68329534hg18UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg38196738
hg19196738
hg18196738
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25789034
Samples
Known GenesARFGEF1, COPS5, CSPP1
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3891407
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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