A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5389609



Internal ID8481344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:43304257..43390506hg38UCSC Ensembl
Outerchr17:43303844..43390546hg38UCSC Ensembl
Innerchr17:41381606..41467874hg19UCSC Ensembl
Outerchr17:41381193..41467914hg19UCSC Ensembl
Innerchr17:38737132..38823400hg18UCSC Ensembl
Outerchr17:38736719..38823440hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3886703
hg1986722
hg1886722
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2525296
Supporting Variants
SamplesNA18507
Known GenesLINC00910
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)essv5389609
Frequency
Sample Size1
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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