A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2759n152



Internal ID22818462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:101775964..101787543hg38UCSC Ensembl
chr14:102242301..102253880hg19UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg3811580
hg1911580
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3227264, nsv3224742
SamplesHG00514
Known GenesPPP2R5C
MethodMerging
Optical mapping
AnalysisBioNano Genomics proprietary analysis
PhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformBioNano Genomics
See merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv2759n152
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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