A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13090579



Internal ID1221524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:8234332..8273812hg38UCSC Ensembl
chr8:8091854..8131334hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3839481
hg1939481
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616129
Supporting Variants
SamplesHG01085
Known GenesFAM86B3P
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13090579
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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