A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13115615



Internal ID3117431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:13970635..14105055hg38UCSC Ensembl
chr8:13828144..13962564hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38134421
hg19134421
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616348
Supporting Variants
SamplesNA19428
Known GenesSGCZ
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13115615
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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