A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647753



Internal ID6687806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:39004677..39029340hg38UCSC Ensembl
chr22:39400682..39425345hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg3824664
hg1924664
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16427672, essv16427673, essv16427674, essv16427671
SamplesNA20287, HG02568, HG02983, HG02343
Known GenesAPOBEC3C, APOBEC3D
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647753
Frequency
Sample Size2504
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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