A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13364594



Internal ID4553570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:143340435..143431612hg38UCSC Ensembl
chr8:144422605..144513782hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3891178
hg1991178
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3619107
Supporting Variants
SamplesHG04056
Known GenesMAFA, RHPN1, RHPN1-AS1, TOP1MT
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13364594
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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