A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607747



Internal ID6647986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:179530394..179602605hg38UCSC Ensembl
chr5:178957395..179029606hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3872212
hg1972212
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12150433
SamplesHG01817
Known GenesRUFY1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607747
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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