A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669252



Internal ID9935357
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 Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5976782, essv5771753
SamplesHG00120, NA20760
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669252
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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