A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275138



Internal ID348044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:74621474..74688327hg38UCSC Ensembl
Outerchr16:74613897..74689009hg38UCSC Ensembl
Innerchr16:74655372..74722225hg19UCSC Ensembl
Outerchr16:74647795..74722907hg19UCSC Ensembl
Innerchr16:73212873..73279726hg18UCSC Ensembl
Outerchr16:73205296..73280408hg18UCSC Ensembl
Cytoband16q22.3
Allele length
AssemblyAllele length
hg3875113
hg1975113
hg1875113
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585176, essv2586071
Samples
Known GenesMLKL, RFWD3
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275138
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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