A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892557



Internal ID18836691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:67482031..67593658hg38UCSC Ensembl
Outerchr14:67469765..67613847hg38UCSC Ensembl
Innerchr14:67948748..68060375hg19UCSC Ensembl
Outerchr14:67936482..68080564hg19UCSC Ensembl
Innerchr14:67018501..67130128hg18UCSC Ensembl
Outerchr14:67006235..67150317hg18UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg38144083
hg19144083
hg18144083
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25789132, essv25790644
Samples
Known GenesPIGH, PLEKHH1, TMEM229B
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892557
Frequency
Sample Size3017
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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