A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5598n54



Internal ID22773493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:41378807..41382643hg38UCSC Ensembl
chr17:39535059..39538895hg19UCSC Ensembl
chr17:36788585..36792421hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg383837
hg193837
hg183837
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv575038, nsv575039
Samples
Known GenesKRT34
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv5598n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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