A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676698



Internal ID9942803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:180110108..180115553hg38UCSC Ensembl
chr3:179827896..179833341hg19UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg385446
hg195446
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6526562
SamplesHG00584
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676698
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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