A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4125n152



Internal ID22819828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:8574522..8574595hg38UCSC Ensembl
chr19:8639406..8639479hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3226304, nsv3299904
SamplesHG00731, HG00733
Known GenesMYO1F
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)dgv4125n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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