A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675216



Internal ID9941321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:90823610..90858486hg38UCSC Ensembl
Outerchr13:90823573..90858536hg38UCSC Ensembl
Innerchr13:91475864..91510740hg19UCSC Ensembl
Outerchr13:91475827..91510790hg19UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg3834964
hg1934964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6474594
SamplesNA19904
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675216
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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