A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674147



Internal ID9940252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:29224900..29228250hg38UCSC Ensembl
Outerchr13:29224743..29228403hg38UCSC Ensembl
Innerchr13:29799037..29802387hg19UCSC Ensembl
Outerchr13:29798880..29802540hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg383661
hg193661
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5916052, essv5557612
SamplesHG00427, HG00418
Known GenesMTUS2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674147
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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