A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10828680



Internal ID830496
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594059
Supporting Variants
SamplesHG03681
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10828680
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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