A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647761



Internal ID6687814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:39204243..39286742hg38UCSC Ensembl
chr22:39600248..39682747hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg3882500
hg1982500
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16427733
SamplesNA20809
Known GenesPDGFB
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647761
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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