A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1007352



Internal ID7072446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:63795994..63803272hg38UCSC Ensembl
Outerchr8:64708551..64715829hg19UCSC Ensembl
Outerchr8:64871105..64878383hg18UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg387279
hg197279
hg187279
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563656
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1007352
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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