A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1414e214



Internal ID20122837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:124419013..124473293hg38UCSC Ensembl
chr8:125431254..125485534hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg3854281
hg1954281
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3618689, esv3618690
SamplesHG02450, NA21113, NA21123
Known GenesRNF139-AS1, TRMT12
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv1414e214
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer