A curated catalogue of human genomic structural variation




Variant Details

Variant: esv998729



Internal ID7081905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:96882765..96882905hg38UCSC Ensembl
Outerchr4:97803916..97804056hg19UCSC Ensembl
Outerchr4:98022939..98023079hg18UCSC Ensembl
Cytoband4q22.3
Allele length
AssemblyAllele length
hg384027
hg194027
hg184027
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565047
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv998729
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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