A curated catalogue of human genomic structural variation




Variant Details

Variant: esv996644



Internal ID7080728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:22231073..22233914hg38UCSC Ensembl
Outerchr18:19811036..19813877hg19UCSC Ensembl
Outerchr18:18065034..18067875hg18UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg382698
hg192698
hg182698
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564552
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv996644
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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