A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25788215



Internal ID18832817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:7670604..7992872hg38UCSC Ensembl
Innerchr16:7720606..8042874hg19UCSC Ensembl
Innerchr16:7660607..7982875hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg38322269
hg19322269
hg18322269
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3892780
Supporting Variants
Samples
Known GenesRBFOX1
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
CommentsNumber of probes=125
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25788215
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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