A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2515057



Internal ID8231929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:71139004..71140098hg38UCSC Ensembl
Outerchr12:71138988..71140108hg38UCSC Ensembl
Innerchr12:71532784..71533878hg19UCSC Ensembl
Outerchr12:71532768..71533888hg19UCSC Ensembl
Innerchr12:69819051..69820145hg18UCSC Ensembl
Outerchr12:69819035..69820155hg18UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg381121
hg191121
hg181121
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5265566
SamplesNA18507
Known GenesTSPAN8
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)esv2515057
Frequency
Sample Size1
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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