A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv341e199



Internal ID22758114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:29042597..29344285hg38UCSC Ensembl
chr13:29616734..29918422hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg38301689
hg19301689
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2676233, esv2678763
SamplesNA18595, HG00110, HG00146, HG00285, HG00357, HG01137
Known GenesMTUS2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv341e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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