A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275373



Internal ID348279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:179169534..179174424hg38UCSC Ensembl
Outerchr3:179169430..179174548hg38UCSC Ensembl
Innerchr3:178887322..178892212hg19UCSC Ensembl
Outerchr3:178887218..178892336hg19UCSC Ensembl
Innerchr3:180370016..180374906hg18UCSC Ensembl
Outerchr3:180369912..180375030hg18UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg385119
hg195119
hg185119
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585235, essv2585146
Samples
Known GenesPIK3CA
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275373
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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