A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13132408



Internal ID3134224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:20127120..20166631hg38UCSC Ensembl
chr8:19984631..20024142hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg3839512
hg1939512
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616559
Supporting Variants
SamplesHG02360
Known GenesSLC18A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13132408
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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