A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2846n100



Internal ID22788933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:32022053..32500434hg38UCSC Ensembl
chr16:32033374..32511755hg19UCSC Ensembl
chr16:31940875..32419256hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38478382
hg19478382
hg18478382
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1064537, nsv1063591
Samples
Known GenesHERC2P4, LOC390705, TP53TG3D
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv2846n100
Frequency
Sample Size11257
Observed Gain2
Observed Loss2
Observed Complex0
Frequencyn/a


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