A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5345096



Internal ID8436831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:58534933..58535014hg38UCSC Ensembl
OuterchrX:58534902..58535033hg38UCSC Ensembl
InnerchrX:58561366..58561447hg19UCSC Ensembl
OuterchrX:58561335..58561466hg19UCSC Ensembl
InnerchrX:58578091..58578172hg18UCSC Ensembl
OuterchrX:58578060..58578191hg18UCSC Ensembl
CytobandXp11.1
Allele length
AssemblyAllele length
hg38132
hg19132
hg18132
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2565047
Supporting Variants
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)essv5345096
Frequency
Sample Size1
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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