A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606288



Internal ID6993224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:112102540..112140747hg38UCSC Ensembl
chr5:111438237..111476444hg19UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg3838208
hg1938208
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1125e214
Supporting Variantsessv12022023, essv12022022
SamplesHG02262, HG01187
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606288
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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