A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25791128



Internal ID18826287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:81322..801057hg38UCSC Ensembl
Innerchr5:81437..801172hg19UCSC Ensembl
Innerchr5:134437..854172hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38719736
hg19719736
hg18719736
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3894107
Supporting Variants
Samples
Known GenesAHRR, C5orf55, CCDC127, CEP72, EXOC3, LOC100996325, LOC102467073, LRRC14B, MIR4456, PDCD6, PLEKHG4B, PP7080, SDHA, SLC9A3, TPPP, ZDHHC11
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=170
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25791128
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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