A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25798021



Internal ID18830039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12792723..12901188hg38UCSC Ensembl
Innerchr1:12852872..12961019hg19UCSC Ensembl
Innerchr1:12775459..12883606hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38108466
hg19108148
hg18108148
Variant TypeCNV loss
Copy Number1
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=16
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25798021
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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