A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1003654



Internal ID7068759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:42327703..42328185hg38UCSC Ensembl
Outerchr8:42185221..42185703hg19UCSC Ensembl
Outerchr8:42304378..42304860hg18UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg38483
hg19483
hg18483
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564525
SamplesHuRef
Known GenesIKBKB
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1003654
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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