A curated catalogue of human genomic structural variation




Variant Details

Variant: esv998750



Internal ID7081926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:55758643..55837790hg38UCSC Ensembl
Outerchr16:55792555..55871702hg19UCSC Ensembl
Outerchr16:54350056..54429203hg18UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3879148
hg1979148
hg1879148
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565358
SamplesHuRef
Known GenesCES1, CES1P1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv998750
Frequency
Sample Size3
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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