A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3565461



Internal ID7036843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:118959541..118968303hg38UCSC Ensembl
Outerchr4:119880696..119889458hg19UCSC Ensembl
Outerchr4:120100144..120108906hg18UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg388763
hg198763
hg188763
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv992928
Supporting Variants
SamplesHuRef
Known GenesSYNPO2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3565461
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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