A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3564080



Internal ID7035180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:45202627..45206393hg38UCSC Ensembl
Outerchr22:45598508..45602274hg19UCSC Ensembl
Outerchr22:43977172..43980938hg18UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg383767
hg193767
hg183767
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1008540
Supporting Variants
SamplesHuRef
Known GenesKIAA0930
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3564080
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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