A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12022712



Internal ID5134594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:112443916..112458536hg38UCSC Ensembl
Innerchr5:112443918..112458535hg38UCSC Ensembl
Outerchr5:112443915..112458538hg38UCSC Ensembl
chr5:111779613..111794233hg19UCSC Ensembl
Innerchr5:111779615..111794232hg19UCSC Ensembl
Outerchr5:111779612..111794235hg19UCSC Ensembl
Cytoband5q22.2
Allele length
AssemblyAllele length
hg3814621
hg1914621
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606296
Supporting Variants
SamplesNA18570
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12022712
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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