A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2712n152



Internal ID22818415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:89511185..89511238hg38UCSC Ensembl
chr14:89977529..89977582hg19UCSC Ensembl
Cytoband14q32.11
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3221994, nsv3212953
SamplesHG00514
Known GenesFOXN3
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)dgv2712n152
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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