A curated catalogue of human genomic structural variation




Variant Details

Variant: esv995411



Internal ID7079834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:46120124..46120134hg38UCSC Ensembl
chr21:47540038..47540048hg19UCSC Ensembl
chr21:46364466..46364476hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3857
hg1957
hg1857
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3582819
SamplesHuRef
Known GenesCOL6A2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv995411
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