A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589702



Internal ID6977031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:5332796..5373390hg38UCSC Ensembl
chr2:5472929..5513523hg19UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg3840595
hg1940595
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv675e214
Supporting Variantsessv10400715, essv10400714, essv10400713
SamplesNA19141, NA12748, NA19113
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589702
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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