A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678763



Internal ID9944868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:29042597..29343286hg38UCSC Ensembl
chr13:29616734..29917423hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg38300690
hg19300690
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv341e199
Supporting Variantsessv5486183, essv5539753, essv5673669, essv5536506, essv5740329
SamplesNA18595, HG00146, HG00285, HG00357, HG01137
Known GenesMTUS2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678763
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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