A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2427673



Internal ID1458213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:46951610..46971115hg38UCSC Ensembl
OuterchrX:46951443..46971306hg38UCSC Ensembl
InnerchrX:46810994..46830499hg19UCSC Ensembl
OuterchrX:46810665..46831200hg19UCSC Ensembl
InnerchrX:46695938..46715443hg18UCSC Ensembl
OuterchrX:46695609..46716144hg18UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg3819864
hg1920536
hg1820536
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5181113
SamplesNA18507
Known GenesJADE3
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)esv2427673
Frequency
Sample Size1
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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