A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606281



Internal ID6646524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:111929634..111999912hg38UCSC Ensembl
chr5:111265331..111335609hg19UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg3870279
hg1970279
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12022013
SamplesNA20803
Known GenesNREP, NREP-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606281
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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