A curated catalogue of human genomic structural variation




Variant Details

Variant: esv989259



Internal ID6725229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:28863729..28864184hg38UCSC Ensembl
Innerchr16:28875050..28875505hg19UCSC Ensembl
Innerchr16:28782551..28783006hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38456
hg19456
hg18456
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3587124
SamplesHuRef
Known GenesSH2B1
MethodOligo aCGH
Analysis
PlatformNot Submitted
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv989259
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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