A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5267914



Internal ID8359649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:55780424..55816344hg38UCSC Ensembl
Outerchr16:55779809..55816465hg38UCSC Ensembl
Innerchr16:55814336..55850256hg19UCSC Ensembl
Outerchr16:55813721..55850377hg19UCSC Ensembl
Innerchr16:54371837..54407757hg18UCSC Ensembl
Outerchr16:54371222..54407878hg18UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3836657
hg1936657
hg1836657
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2470039
Supporting Variants
SamplesNA18507
Known GenesCES1
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
CommentsoriginalFile=Yoruban_inv.gff
ReferenceMcKernan_et_al_2009
Pubmed ID19546169
Accession Number(s)essv5267914
Frequency
Sample Size1
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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