A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4968n54



Internal ID22772863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:28404572..28414773hg38UCSC Ensembl
chr16:28415893..28426094hg19UCSC Ensembl
chr16:28323394..28333595hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3810202
hg1910202
hg1810202
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv571737, nsv571733, nsv571732, nsv571735
Samples
Known GenesEIF3C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv4968n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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