A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25798459



Internal ID18835788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12806454..12855993hg38UCSC Ensembl
Innerchr1:12866590..12915847hg19UCSC Ensembl
Innerchr1:12789177..12838434hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3849540
hg1949258
hg1849258
Variant TypeCNV loss
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891192
Supporting Variants
Samples
Known GenesHNRNPCL1, LOC649330, PRAMEF11
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=13
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25798459
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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