A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3012n100



Internal ID20154628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:70117612..70232860hg38UCSC Ensembl
chr16:70151515..70266763hg19UCSC Ensembl
chr16:68709016..68824264hg18UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg38115249
hg19115249
hg18115249
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1057130, nsv1064951
Samples
Known GenesCLEC18C, LOC100506060, PDPR
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3012n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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