A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668548



Internal ID9934653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:76887311..76888557hg38UCSC Ensembl
Outerchr13:76887154..76888710hg38UCSC Ensembl
Innerchr13:77461446..77462692hg19UCSC Ensembl
Outerchr13:77461289..77462845hg19UCSC Ensembl
Cytoband13q22.3
Allele length
AssemblyAllele length
hg381557
hg191557
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5928251, essv6529761
SamplesNA12842, NA20798
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668548
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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