A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12026262



Internal ID5550689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:115370532..115385402hg38UCSC Ensembl
Innerchr5:115370541..115385393hg38UCSC Ensembl
Outerchr5:115370523..115385411hg38UCSC Ensembl
chr5:114706229..114721099hg19UCSC Ensembl
Innerchr5:114706238..114721090hg19UCSC Ensembl
Outerchr5:114706220..114721108hg19UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg3814871
hg1914871
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606364
Supporting Variants
SamplesNA19005
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12026262
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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