A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607579



Internal ID6994511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:171475446..171483571hg38UCSC Ensembl
chr5:170902450..170910575hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg388126
hg198126
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12132650
SamplesHG03850
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607579
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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