A curated catalogue of human genomic structural variation




Variant Details

Variant: esv990522



Internal ID7076653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:243844469..243845651hg38UCSC Ensembl
Outerchr1:244007771..244008953hg19UCSC Ensembl
Outerchr1:242074394..242075576hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg384100
hg194100
hg184100
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565556
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv990522
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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