A curated catalogue of human genomic structural variation




Variant Details

Variant: esv998118



Internal ID6734058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:88954755..88956010hg38UCSC Ensembl
Outerchr16:89021163..89022418hg19UCSC Ensembl
Outerchr16:87548664..87549919hg18UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg381256
hg191256
hg181256
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563828
SamplesHuRef
Known GenesCBFA2T3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv998118
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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