A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16427670



Internal ID6429486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:38997523..39050430hg38UCSC Ensembl
Innerchr22:38997673..39050280hg38UCSC Ensembl
Outerchr22:38997373..39050580hg38UCSC Ensembl
chr22:39393528..39446435hg19UCSC Ensembl
Innerchr22:39393678..39446285hg19UCSC Ensembl
Outerchr22:39393378..39446585hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg3852908
hg1952908
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647751
Supporting Variants
SamplesNA20287
Known GenesAPOBEC3B-AS1, APOBEC3C, APOBEC3D, APOBEC3F
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16427670
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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