A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4995n152



Internal ID22820698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:219159513..219159588hg38UCSC Ensembl
chr2:220024235..220024310hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3202987, nsv3205031
SamplesHG00512, HG00732, HG00733, HG00514
Known GenesNHEJ1
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)dgv4995n152
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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