A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666370



Internal ID9932475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:78392719..78396762hg38UCSC Ensembl
chr13:78966854..78970897hg19UCSC Ensembl
Cytoband13q22.3
Allele length
AssemblyAllele length
hg384044
hg194044
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5898843
SamplesHG01374
Known GenesRNF219-AS1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666370
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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