A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662431



Internal ID9928536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:54117855..54125708hg38UCSC Ensembl
Outerchr13:54117797..54125758hg38UCSC Ensembl
Innerchr13:54691990..54699843hg19UCSC Ensembl
Outerchr13:54691932..54699893hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg387962
hg197962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6034879
SamplesNA18577
Known GenesLINC00458
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662431
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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