A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3586776



Internal ID7058158
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 OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv996771
Supporting Variants
SamplesHuRef
Known GenesEBF1
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3586776
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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