A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13117521



Internal ID3119337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:15528780..15600263hg38UCSC Ensembl
chr8:15386289..15457772hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3871484
hg1971484
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616403
Supporting Variants
SamplesNA12234
Known GenesTUSC3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13117521
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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