A curated catalogue of human genomic structural variation




Variant Details

Variant: esv987942



Internal ID6723916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:126640016..126640981hg38UCSC Ensembl
Outerchr3:126358859..126359824hg19UCSC Ensembl
Outerchr3:127841549..127842514hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38966
hg19966
hg18966
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564156
SamplesHuRef
Known GenesTXNRD3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv987942
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