A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12936n54



Internal ID22780831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:133429017..133429735hg38UCSC Ensembl
chr9:136294137..136294855hg19UCSC Ensembl
chr9:135283958..135284676hg18UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg38719
hg19719
hg18719
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv615635, nsv615632
Samples
Known GenesADAMTS13
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv12936n54
Frequency
Sample Size17421
Observed Gain6
Observed Loss2
Observed Complex0
Frequencyn/a


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