A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591416



Internal ID6978744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:79960185..80012745hg38UCSC Ensembl
chr2:80187311..80239871hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3852561
hg1952561
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10557549, essv10557548, essv10557547
SamplesHG01271, NA19454, HG01507
Known GenesCTNNA2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591416
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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