A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3894107



Internal ID18838275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:81322..801057hg38UCSC Ensembl
Outerchr5:81322..801057hg38UCSC Ensembl
Innerchr5:81437..801172hg19UCSC Ensembl
Outerchr5:81437..801172hg19UCSC Ensembl
Innerchr5:134437..854172hg18UCSC Ensembl
Outerchr5:134437..854172hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38719736
hg19719736
hg18719736
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25791128
Samples
Known GenesAHRR, C5orf55, CCDC127, CEP72, EXOC3, LOC100996325, LOC102467073, LRRC14B, MIR4456, PDCD6, PLEKHG4B, PP7080, SDHA, SLC9A3, TPPP, ZDHHC11
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3894107
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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