A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1004750



Internal ID6716873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:42992088..42994612hg38UCSC Ensembl
Outerchr21:44412198..44414722hg19UCSC Ensembl
Outerchr21:43285267..43287791hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg382378
hg192378
hg182378
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565521
SamplesHuRef
Known GenesPKNOX1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1004750
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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