A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12033550



Internal ID2035366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:118821330..118982364hg38UCSC Ensembl
chr5:118157025..118318059hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38161035
hg19161035
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606474
Supporting Variants
SamplesHG04164
Known GenesDTWD2, MIR1244-1, MIR1244-2, MIR1244-3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12033550
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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