A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv13e197



Internal ID22757716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:46381084..46403658hg38UCSC Ensembl
chr16:46413761..46437570hg19UCSC Ensembl
chr16:44971262..44995071hg18UCSC Ensembl
Cytoband16q11.2
Allele length
AssemblyAllele length
hg3822575
hg1923810
hg1823810
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2510860, esv2490463
SamplesNA18507
Known Genes
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)dgv13e197
Frequency
Sample Size1
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer