A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2475335



Internal ID8192208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46265955..46309183hg38UCSC Ensembl
Outerchr10:46265494..46309470hg38UCSC Ensembl
Innerchr10:47637191..47680419hg19UCSC Ensembl
Outerchr10:47636730..47680706hg19UCSC Ensembl
Innerchr10:47107197..47150425hg18UCSC Ensembl
Outerchr10:47106736..47150712hg18UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg3843977
hg1943977
hg1843977
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5363903
SamplesNA18507
Known GenesANTXRL, ANTXRLP1
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)esv2475335
Frequency
Sample Size1
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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