A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25789132



Internal ID18817745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:67469765..67613847hg38UCSC Ensembl
Innerchr14:67936482..68080564hg19UCSC Ensembl
Innerchr14:67006235..67150317hg18UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg38144083
hg19144083
hg18144083
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892557
Supporting Variants
Samples
Known GenesPIGH, PLEKHH1, TMEM229B
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=40
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25789132
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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