A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661834



Internal ID9581253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:50004992..50007571hg38UCSC Ensembl
Outerchr13:50004835..50007724hg38UCSC Ensembl
Innerchr13:50579128..50581707hg19UCSC Ensembl
Outerchr13:50578971..50581860hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg382890
hg192890
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5470380, essv6163786, essv5993073
SamplesNA19428, NA19107, NA19703
Known GenesDLEU2, TRIM13
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661834
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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