A curated catalogue of human genomic structural variation




Variant Details

Variant: esv32898



Internal ID1684020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:41746533..41748518hg19UCSC Ensembl
Innerchr4:41441290..41443275hg18UCSC Ensembl
Innerchr4:41587461..41589446hg17UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsessv97116, essv95515, essv94357, essv93732, essv100081, essv98292, essv93201, essv100769, essv95576, essv98367, essv98898, essv97001
Samples21972, 22170, 21817, 21841, 22352, 21656, 22075, 21772, 21606, 22086, 21808, 21847
Known GenesPHOX2B
Method
Analysis
PlatformAgilent-015366 Custom Human 244K CGH Microarray
Comments
Referencede_Smith_et_al_2007
Pubmed ID17666407
Accession Number(s)esv32898
Frequency
Sample Size51
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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