A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658441



Internal ID9924546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:99661504..99666792hg38UCSC Ensembl
chr3:99380348..99385636hg19UCSC Ensembl
Cytoband3q12.1
Allele length
AssemblyAllele length
hg385289
hg195289
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5530599
SamplesNA18553
Known GenesCOL8A1, MIR548G
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658441
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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