A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673798



Internal ID9593217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:98235053..98236000hg38UCSC Ensembl
chr9:100997335..100998282hg19UCSC Ensembl
Cytoband9q22.33
Allele length
AssemblyAllele length
hg38948
hg19948
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5664112, essv5860462, essv5416563
SamplesNA20334, NA18853, NA19439
Known GenesTBC1D2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673798
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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