A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4712n152



Internal ID22820415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:102352850..102353859hg38UCSC Ensembl
chr2:102969310..102970319hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg381010
hg191010
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3186410, nsv3171930
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)dgv4712n152
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer