A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1186n145



Internal ID22814202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:67337720..67341067hg38UCSC Ensembl
chr8:68249955..68253302hg19UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg383348
hg193348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3113818, nsv3115792
Samplessample145, sample294, sample402, sample153, sample351
Known GenesARFGEF1
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)dgv1186n145
Frequency
Sample Size467
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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