A curated catalogue of human genomic structural variation




Variant Details

Variant: esv994135



Internal ID7062930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:125582411..125588892hg38UCSC Ensembl
Outerchr8:126594655..126601136hg19UCSC Ensembl
Outerchr8:126663837..126670318hg18UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg386482
hg196482
hg186482
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv189e180
Supporting Variantsessv3563774
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv994135
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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