A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25797241



Internal ID18833303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12811189..12954384hg38UCSC Ensembl
Innerchr1:12871327..13016981hg19UCSC Ensembl
Innerchr1:12793914..12939568hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38143196
hg19145655
hg18145655
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891414
Supporting Variants
Samples
Known GenesHNRNPCL1, LOC649330, PRAMEF10, PRAMEF11, PRAMEF2, PRAMEF4, PRAMEF6, PRAMEF7, PRAMEF8
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=12
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25797241
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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