A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678721



Internal ID9598140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:7915332..7918244hg38UCSC Ensembl
chr1:7975392..7978304hg19UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg382913
hg192913
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5580510
SamplesHG00159
Known GenesTNFRSF9
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678721
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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