A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv186e180



Internal ID22757596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:72875372..72882038hg38UCSC Ensembl
chr8:73787607..73794273hg19UCSC Ensembl
chr8:73950161..73956827hg18UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg386667
hg196667
hg186667
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv993846, esv993471
SamplesHuRef
Known GenesKCNB2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)dgv186e180
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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