A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5281290



Internal ID8373025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:80763240..80763320hg38UCSC Ensembl
Outerchr16:80762532..80763803hg38UCSC Ensembl
Innerchr16:80797137..80797217hg19UCSC Ensembl
Outerchr16:80796429..80797700hg19UCSC Ensembl
Innerchr16:79354638..79354718hg18UCSC Ensembl
Outerchr16:79353930..79355201hg18UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg381272
hg191272
hg181272
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2636902
Supporting Variants
SamplesNA18507
Known GenesCDYL2
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)essv5281290
Frequency
Sample Size1
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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