A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5976782



Internal ID9885112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:50690737..50693615hg38UCSC Ensembl
chr13:51264873..51267751hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg382879
hg192879
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2669252
Supporting Variants
SamplesNA20760
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5976782
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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