A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606278



Internal ID6646521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:111756034..111914798hg38UCSC Ensembl
chr5:111091731..111250495hg19UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg38158765
hg19158765
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12022004
SamplesNA20803
Known GenesNREP, NREP-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606278
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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