A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5078n152



Internal ID22820781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:238633800..238633858hg38UCSC Ensembl
chr2:239542441..239542499hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3208137, nsv3208162
SamplesHG00512, NA19238, HG00514
Known Genes
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)dgv5078n152
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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