A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2545282



Internal ID8608840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:62798833..62818154hg38UCSC Ensembl
Outerchr9:62798833..62818574hg38UCSC Ensembl
Innerchr9:66454657..66473978hg19UCSC Ensembl
Outerchr9:66454657..66474398hg19UCSC Ensembl
Innerchr9:66194152..66213798hg18UCSC Ensembl
Outerchr9:66194123..66214218hg18UCSC Ensembl
Cytoband9q12
Allele length
AssemblyAllele length
hg3819742
hg1919742
hg1820096
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5182610
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
CommentsoriginalFile=Yoruban_inv.gff
ReferenceMcKernan_et_al_2009
Pubmed ID19546169
Accession Number(s)esv2545282
Frequency
Sample Size1
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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