A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12065338



Internal ID4549591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:133790833..133795185hg38UCSC Ensembl
chr5:133126524..133130876hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg384353
hg194353
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606828
Supporting Variants
SamplesHG04047
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12065338
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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