A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv15e197



Internal ID22757718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:55764951..55816465hg38UCSC Ensembl
chr16:55798863..55850377hg19UCSC Ensembl
chr16:54356364..54407878hg18UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3851515
hg1951515
hg1851515
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2451120, esv2470039
SamplesNA18507
Known GenesCES1, CES1P1
MethodSequencing
AnalysisInversions are detected using the AB Inversion Tool. When one end of a mate pair maps to the opposite strand of the other, the pair provides evidence of an inversion. Multiple instances in the same area will be a positive call.
PlatformNot specified
Comments
ReferenceMcKernan_et_al_2009
Pubmed ID19546169
Accession Number(s)dgv15e197
Frequency
Sample Size1
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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