A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3196n152



Internal ID22818899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:28698456..28709345hg38UCSC Ensembl
chr16:28709777..28720666hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3810890
hg1910890
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3285613, nsv3287745, nsv3284618
SamplesNA19240, HG00733, HG00514
Known GenesEIF3C
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv3196n152
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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