A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275013



Internal ID347919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:85057056..85059286hg38UCSC Ensembl
Outerchr16:85053540..85059508hg38UCSC Ensembl
Innerchr16:85090662..85092892hg19UCSC Ensembl
Outerchr16:85087146..85093114hg19UCSC Ensembl
Innerchr16:83648163..83650393hg18UCSC Ensembl
Outerchr16:83644647..83650615hg18UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg385969
hg195969
hg185969
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585543, essv2585958
Samples
Known GenesKIAA0513
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275013
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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