A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4747n152



Internal ID22820450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:113948973..113952918hg38UCSC Ensembl
chr2:114706550..114710495hg19UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg383946
hg193946
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3180009, nsv3187011
SamplesNA19240, HG00514
Known GenesACTR3
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv4747n152
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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