A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5898843



Internal ID9170037
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 Flag1
Merged StatusS
Merged Variantsesv2666370
Supporting Variants
SamplesHG01374
Known GenesRNF219-AS1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5898843
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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