A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275338



Internal ID348244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:66019315..66020304hg38UCSC Ensembl
Outerchr16:66017015..66020806hg38UCSC Ensembl
Innerchr16:66053218..66054207hg19UCSC Ensembl
Outerchr16:66050918..66054709hg19UCSC Ensembl
Innerchr16:64610719..64611708hg18UCSC Ensembl
Outerchr16:64608419..64612210hg18UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg383792
hg193792
hg183792
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585460, essv2585254
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)esv275338
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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