A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666691



Internal ID9932796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:38962275..38992211hg38UCSC Ensembl
chr22:39358280..39388216hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg3829937
hg1929937
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv833e199
Supporting Variantsessv6298067, essv5530643, essv5837801, essv6524590, essv5578986, essv6037315, essv5730738, essv6248786, essv5597747, essv5699450, essv5559584, essv5573481, essv6463832, essv5684648, essv6402910, essv6446390
SamplesHG00187, HG00306, HG00181, HG00177, HG00327, HG00272, HG00334, HG00277, HG00325, HG00323, HG00313, HG00188, HG00328, HG00320, HG00276, HG00310
Known GenesAPOBEC3A, APOBEC3A_B, APOBEC3B, APOBEC3B-AS1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666691
Frequency
Sample Size1151
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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