A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788182



Internal ID18813580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12790393..12901187hg38UCSC Ensembl
Innerchr1:12850542..12961018hg19UCSC Ensembl
Innerchr1:12773129..12883605hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38110795
hg19110477
hg18110477
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891748
Supporting Variants
Samples
Known GenesHNRNPCL1, LOC649330, PRAMEF1, PRAMEF10, PRAMEF11, PRAMEF2, PRAMEF4
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=17
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788182
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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