A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2041n152



Internal ID22817744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:125856279..125856337hg38UCSC Ensembl
chr12:126340825..126340883hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3209138, nsv3200489
SamplesNA19240, HG00733
Known Genes
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv2041n152
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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