A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275084



Internal ID347990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:157972030..157972879hg38UCSC Ensembl
Outerchr5:157966535..157974887hg38UCSC Ensembl
Innerchr5:157399038..157399887hg19UCSC Ensembl
Outerchr5:157393543..157401895hg19UCSC Ensembl
Innerchr5:157331616..157332465hg18UCSC Ensembl
Outerchr5:157326121..157334473hg18UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg388353
hg198353
hg188353
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585970
Samples
Known Genes
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275084
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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