A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590979



Internal ID6978307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:59175839..59263341hg38UCSC Ensembl
chr2:59402974..59490476hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3887503
hg1987503
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10518215
SamplesHG04186
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590979
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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