A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606343



Internal ID6993279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:114504736..114660341hg38UCSC Ensembl
chr5:113840433..113996038hg19UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg38155606
hg19155606
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12023929
SamplesHG01112
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606343
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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