A curated catalogue of human genomic structural variation




Variant Details

Variant: esv994280



Internal ID7078930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:29449609..29466172hg38UCSC Ensembl
Outerchr17:27776627..27793190hg19UCSC Ensembl
Outerchr17:24800753..24817316hg18UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3816564
hg1916564
hg1816564
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563979
SamplesHuRef
Known GenesTAOK1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv994280
Frequency
Sample Size3
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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