A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13286453



Internal ID5504573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:111158382..111395792hg38UCSC Ensembl
chr8:112170611..112408021hg19UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg38237411
hg19237411
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618421
Supporting Variants
SamplesNA18986
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13286453
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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