A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25797208



Internal ID18821704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12820292..12954384hg38UCSC Ensembl
Innerchr1:12880153..13016981hg19UCSC Ensembl
Innerchr1:12802740..12939568hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38134093
hg19136829
hg18136829
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=11
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25797208
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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