A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2573650



Internal ID8290522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:20619642..20701016hg38UCSC Ensembl
Outerchr19:20619097..20701347hg38UCSC Ensembl
Innerchr19:20802448..20883822hg19UCSC Ensembl
Outerchr19:20801903..20884153hg19UCSC Ensembl
Innerchr19:20594288..20675662hg18UCSC Ensembl
Outerchr19:20593743..20675993hg18UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg3882251
hg1982251
hg1882251
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5368829
SamplesNA18507
Known GenesZNF626
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)esv2573650
Frequency
Sample Size1
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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