A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590958



Internal ID6978286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:58247721..58291695hg38UCSC Ensembl
chr2:58474856..58518830hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg3843975
hg1943975
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10517680
SamplesHG04176
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590958
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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