A curated catalogue of human genomic structural variation




Variant Details

Variant: esv997418



Internal ID6733360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:54087761..54087761hg38UCSC Ensembl
chr5:53383591..53383591hg19UCSC Ensembl
chr5:53419348..53419348hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3866
hg1966
hg1866
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3575527
SamplesHuRef
Known GenesARL15
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv997418
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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