A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25792878



Internal ID18813080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12794693..12943584hg38UCSC Ensembl
Innerchr1:12854842..13003414hg19UCSC Ensembl
Innerchr1:12777429..12926001hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38148892
hg19148573
hg18148573
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891414
Supporting Variants
Samples
Known GenesHNRNPCL1, LOC649330, PRAMEF1, PRAMEF10, PRAMEF11, PRAMEF2, PRAMEF4, PRAMEF6, PRAMEF7, PRAMEF8
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=40
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25792878
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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