A curated catalogue of human genomic structural variation




Variant Details

Variant: esv993471



Internal ID7062383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:72875537..72881594hg38UCSC Ensembl
chr8:73787772..73793829hg19UCSC Ensembl
chr8:73950326..73956383hg18UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg386058
hg196058
hg186058
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv186e180
Supporting Variantsessv3565837
SamplesHuRef
Known GenesKCNB2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv993471
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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