A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2555036



Internal ID8618594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:49157255..49162986hg38UCSC Ensembl
OuterchrX:49157255..49162986hg38UCSC Ensembl
InnerchrX:49013574..49019325hg19UCSC Ensembl
OuterchrX:49013110..49019762hg19UCSC Ensembl
InnerchrX:48900518..48906269hg18UCSC Ensembl
OuterchrX:48900054..48906706hg18UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg385732
hg196653
hg186653
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5235645
SamplesNA18507
Known GenesMAGIX
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)esv2555036
Frequency
Sample Size1
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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