A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670950



Internal ID9937055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:182092945..182122966hg38UCSC Ensembl
chr3:181810733..181840754hg19UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg3830022
hg1930022
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6435742
SamplesHG00284
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670950
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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