A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11145563



Internal ID6334757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:129914221..129916102hg38UCSC Ensembl
Innerchr3:129914221..129916102hg38UCSC Ensembl
Outerchr3:129913909..129916401hg38UCSC Ensembl
chr3:129633064..129634945hg19UCSC Ensembl
Innerchr3:129633064..129634945hg19UCSC Ensembl
Outerchr3:129632752..129635244hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg381882
hg191882
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597751
Supporting Variants
SamplesNA19982
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11145563
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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