A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663247



Internal ID9929352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:30381675..30383952hg38UCSC Ensembl
Outerchr13:30381638..30384002hg38UCSC Ensembl
Innerchr13:30955812..30958089hg19UCSC Ensembl
Outerchr13:30955775..30958139hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg382365
hg192365
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6439347
SamplesHG00478
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663247
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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