A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4545n152



Internal ID22820248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:33724801..33728150hg38UCSC Ensembl
chr2:33949868..33953217hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg383350
hg193350
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3208293, nsv3197690
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesMYADML
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)dgv4545n152
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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