A curated catalogue of human genomic structural variation




Variant Details

Variant: esv996045



Internal ID7080355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:80182771..80191218hg38UCSC Ensembl
Outerchr8:81095006..81103453hg19UCSC Ensembl
Outerchr8:81257561..81266008hg18UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg388448
hg198448
hg188448
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565771
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv996045
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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