A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1010320



Internal ID6722410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:79129650..79131143hg38UCSC Ensembl
Outerchr5:78425473..78426966hg19UCSC Ensembl
Outerchr5:78461229..78462722hg18UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg382465
hg192465
hg182465
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563481
SamplesHuRef
Known GenesBHMT
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1010320
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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