A curated catalogue of human genomic structural variation




Variant Details

Variant: esv996771



Internal ID7063697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:158751404..158754037hg38UCSC Ensembl
Innerchr5:158178412..158181045hg19UCSC Ensembl
Innerchr5:158110990..158113623hg18UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg382634
hg192634
hg182634
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv153e180
Supporting Variantsessv3586776
SamplesHuRef
Known GenesEBF1
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv996771
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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