A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660577



Internal ID9579996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:38961311..38991917hg38UCSC Ensembl
Outerchr22:38960940..38992287hg38UCSC Ensembl
Innerchr22:39357316..39387922hg19UCSC Ensembl
Outerchr22:39356945..39388292hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg3831348
hg1931348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv833e199
Supporting Variantsessv6554127, essv6236739, essv5569307, essv5570108, essv5702302, essv5431967, essv6341169, essv6024770
SamplesHG00736, HG01072, HG01187, HG01171, HG01073, HG01101, HG00734, HG01191
Known GenesAPOBEC3A, APOBEC3A_B, APOBEC3B, APOBEC3B-AS1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660577
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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