A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606815



Internal ID6993750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:133165549..133186365hg38UCSC Ensembl
chr5:132501241..132522057hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3820817
hg1920817
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12064714
SamplesNA07347
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606815
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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