A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1006514



Internal ID6718631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:39108035..39111190hg38UCSC Ensembl
Outerchr5:39108137..39111292hg19UCSC Ensembl
Outerchr5:39143894..39147049hg18UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg383110
hg193110
hg183110
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563903
SamplesHuRef
Known GenesFYB
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1006514
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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