A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4965n152



Internal ID22820668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:207609758..207612060hg38UCSC Ensembl
chr2:208474482..208476784hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg382303
hg192303
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3198138, nsv3282022
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesMETTL21A
MethodMerging
Sequencing
AnalysisMultiple analysis algorthms
PhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformIllumina HiSeq
See merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv4965n152
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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