A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647751



Internal ID6687805
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16427670, essv16427668, essv16427669, essv16427667
SamplesNA20287, HG02568, HG02983, HG02343
Known GenesAPOBEC3B-AS1, APOBEC3C, APOBEC3D, APOBEC3F
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647751
Frequency
Sample Size2504
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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