A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5772864



Internal ID9374416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:78423474..78424584hg38UCSC Ensembl
chr13:78997609..78998719hg19UCSC Ensembl
Cytoband13q22.3
Allele length
AssemblyAllele length
hg381111
hg191111
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2672571
Supporting Variants
SamplesNA18566
Known GenesRNF219-AS1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5772864
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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