A curated catalogue of human genomic structural variation




Variant Details

Variant: esv33139



Internal ID1684261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:121500400..122091831hg19UCSC Ensembl
Innerchr3:122983090..123574521hg18UCSC Ensembl
Innerchr3:122983090..123574521hg17UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg19661708
hg18661708
hg17661708
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv94257
Samples22394
Known GenesCASR, CCDC58, CD86, CSTA, EAF2, ILDR1, IQCB1, SLC15A2
Method
Analysis
PlatformAgilent-015366 Custom Human 244K CGH Microarray
Comments
Referencede_Smith_et_al_2007
Pubmed ID17666407
Accession Number(s)esv33139
Frequency
Sample Size51
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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