A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2855347



Internal ID10528327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:31940584..31940911hg38UCSC Ensembl
Outerchr18:29520547..29520874hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg38328
hg19328
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7124914
SamplesHuRef
Known GenesTRAPPC8
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)esv2855347
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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