A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6189315



Internal ID9166718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:38962561..38992917hg38UCSC Ensembl
Outerchr22:38962190..38993337hg38UCSC Ensembl
Innerchr22:39358566..39388922hg19UCSC Ensembl
Outerchr22:39358195..39389342hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg3831148
hg1931148
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2661117
Supporting Variants
SamplesNA18973
Known GenesAPOBEC3A, APOBEC3A_B, APOBEC3B, APOBEC3B-AS1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6189315
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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