A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2604561



Internal ID8668119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:71570082..71578564hg38UCSC Ensembl
Outerchr11:71569794..71579360hg38UCSC Ensembl
Innerchr11:71281128..71289610hg19UCSC Ensembl
Outerchr11:71280840..71290406hg19UCSC Ensembl
Innerchr11:70958776..70967258hg18UCSC Ensembl
Outerchr11:70958488..70968054hg18UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg389567
hg199567
hg189567
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5334680
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)esv2604561
Frequency
Sample Size1
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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