A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13302954



Internal ID4639814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:119111135..119119534hg38UCSC Ensembl
chr8:120123374..120131773hg19UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg388400
hg198400
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618588
Supporting Variants
SamplesHG04171
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13302954
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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