A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658865



Internal ID9924970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:104843813..104849863hg38UCSC Ensembl
chr1:105386435..105392485hg19UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg386051
hg196051
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5728653, essv5758916, essv6013894, essv5582440, essv6215056
SamplesNA19373, HG01198, NA19445, NA19347, NA19431
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658865
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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