A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3619106



Internal ID6659298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:143335042..143378947hg38UCSC Ensembl
chr8:144417212..144461117hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3843906
hg1943906
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13364593
SamplesHG04056
Known GenesRHPN1, RHPN1-AS1, TOP1MT
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3619106
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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