A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594059



Internal ID6634336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:205959421..205980507hg38UCSC Ensembl
chr2:206824145..206845231hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg3821087
hg1921087
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10828680
SamplesHG03681
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594059
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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