A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1002745



Internal ID6714879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:33565563..33565563hg38UCSC Ensembl
chr22:33961549..33961549hg19UCSC Ensembl
chr22:32291549..32291549hg18UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38110
hg19110
hg18110
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3575593
SamplesHuRef
Known GenesLARGE
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1002745
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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