A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1512e214



Internal ID20122935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:131418462..131577569hg38UCSC Ensembl
chr9:134293849..134452956hg19UCSC Ensembl
Cytoband9q34.13
Allele length
AssemblyAllele length
hg38159108
hg19159108
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3621890, esv3621888
SamplesNA18967
Known GenesPOMT1, PRRC2B, RAPGEF1, SNORD62A, SNORD62B, UCK1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv1512e214
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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