A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13364593



Internal ID3366409
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3619106
Supporting Variants
SamplesHG04056
Known GenesRHPN1, RHPN1-AS1, TOP1MT
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13364593
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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