A curated catalogue of human genomic structural variation




Variant Details

Variant: esv989570



Internal ID7061048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:178262236..178277739hg38UCSC Ensembl
Outerchr5:177689237..177704740hg19UCSC Ensembl
Outerchr5:177621843..177637346hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3815504
hg1915504
hg1815504
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563489
SamplesHuRef
Known GenesCOL23A1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv989570
Frequency
Sample Size3
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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