A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12023128



Internal ID458650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:112927927..112944351hg38UCSC Ensembl
Innerchr5:112927972..112944307hg38UCSC Ensembl
Outerchr5:112927883..112944396hg38UCSC Ensembl
chr5:112263624..112280048hg19UCSC Ensembl
Innerchr5:112263669..112280004hg19UCSC Ensembl
Outerchr5:112263580..112280093hg19UCSC Ensembl
Cytoband5q22.2
Allele length
AssemblyAllele length
hg3816425
hg1916425
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606303
Supporting Variants
SamplesHG00145
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12023128
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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