A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5165859



Internal ID8257594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:1893379..1939627hg38UCSC Ensembl
Outerchr11:1892970..1939862hg38UCSC Ensembl
Innerchr11:1914609..1960857hg19UCSC Ensembl
Outerchr11:1914200..1961092hg19UCSC Ensembl
Innerchr11:1871185..1917433hg18UCSC Ensembl
Outerchr11:1870776..1917668hg18UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg3846893
hg1946893
hg1846893
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2615443
Supporting Variants
SamplesNA18507
Known GenesTNNT3
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)essv5165859
Frequency
Sample Size1
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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