A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13252056



Internal ID6279883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:89367505..89412955hg38UCSC Ensembl
chr8:90379734..90425184hg19UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg3845451
hg1945451
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617975
Supporting Variants
SamplesNA19795
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13252056
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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