A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3044n100



Internal ID22789131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:80613653..80641945hg38UCSC Ensembl
chr16:80647550..80675842hg19UCSC Ensembl
chr16:79205051..79233343hg18UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg3828293
hg1928293
hg1828293
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1057562, nsv1055196
Samples
Known GenesCDYL2, MIR548H4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3044n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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