A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13312198



Internal ID3314014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:124423762..124470967hg38UCSC Ensembl
chr8:125436003..125483208hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg3847206
hg1947206
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618690
Supporting Variants
SamplesHG02450
Known GenesRNF139-AS1, TRMT12
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13312198
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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