A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671255



Internal ID9590674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:66683084..66686870hg38UCSC Ensembl
chr8:67595319..67599105hg19UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg383787
hg193787
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6093147
SamplesNA19657
Known GenesC8orf44-SGK3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671255
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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