A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv16e197



Internal ID22757719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:43303844..43390546hg38UCSC Ensembl
chr17:41381193..41467914hg19UCSC Ensembl
chr17:38736719..38823440hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3886703
hg1986722
hg1886722
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2619780, esv2525296
SamplesNA18507
Known GenesLINC00910
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
Comments
ReferenceMcKernan_et_al_2009
Pubmed ID19546169
Accession Number(s)dgv16e197
Frequency
Sample Size1
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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