A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1003529



Internal ID6715661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:455611..459074hg38UCSC Ensembl
Outerchr16:505611..509074hg19UCSC Ensembl
Outerchr16:445612..449075hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg382849
hg192849
hg182849
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563545
SamplesHuRef
Known GenesRAB11FIP3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1003529
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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