A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25796164



Internal ID18820519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:6943054..6951230hg38UCSC Ensembl
Innerchr16:6993055..7001231hg19UCSC Ensembl
Innerchr16:6933056..6941232hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg388177
hg198177
hg188177
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892777
Supporting Variants
Samples
Known GenesRBFOX1
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=7
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25796164
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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