A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605025



Internal ID6645275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:50558581..50646735hg38UCSC Ensembl
chr5:49854415..49942569hg19UCSC Ensembl
Cytoband5q11.1
Allele length
AssemblyAllele length
hg3888155
hg1988155
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11899955
SamplesNA19749
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605025
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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