A curated catalogue of human genomic structural variation




Variant Details

Variant: esv33189



Internal ID1684311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:30800223..31911745hg19UCSC Ensembl
Innerchr14:29869974..30981496hg18UCSC Ensembl
Innerchr14:29869974..30981496hg17UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsessv98740, essv99836
Samples21606, 22086
Known GenesAP4S1, COCH, G2E3, HEATR5A, HECTD1, LOC100506071, MIR624, SCFD1, STRN3
Method
Analysis
PlatformAgilent-015366 Custom Human 244K CGH Microarray
Comments
Referencede_Smith_et_al_2007
Pubmed ID17666407
Accession Number(s)esv33189
Frequency
Sample Size51
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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