A curated catalogue of human genomic structural variation




Variant Details

Variant: esv999938



Internal ID7082546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:158750639..158755073hg38UCSC Ensembl
Outerchr5:158177647..158182081hg19UCSC Ensembl
Outerchr5:158110225..158114659hg18UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg384435
hg194435
hg184435
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564240
SamplesHuRef
Known GenesEBF1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv999938
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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