A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5161448



Internal ID7906162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:6633716..6862972hg38UCSC Ensembl
Innerchr16:6683717..6912973hg19UCSC Ensembl
Innerchr16:6623718..6852974hg18UCSC Ensembl
Innerchr16:6623718..6852974hg17UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg38229257
hg19229257
hg18229257
hg17229257
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422241
Supporting Variants
SamplesND03710
Known GenesRBFOX1
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)essv5161448
Frequency
Sample Size181
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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