A curated catalogue of human genomic structural variation




Variant Details

Variant: esv993846



Internal ID7078837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:72875372..72882038hg38UCSC Ensembl
Outerchr8:73787607..73794273hg19UCSC Ensembl
Outerchr8:73950161..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 Variantsdgv186e180
Supporting Variantsessv3565572
SamplesHuRef
Known GenesKCNB2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv993846
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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