A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7414n152



Internal ID22823117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:82908752..82908872hg38UCSC Ensembl
chr5:82204571..82204691hg19UCSC Ensembl
Cytoband5q14.2
Allele length
AssemblyAllele length
hg38121
hg19121
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3287013, nsv3526013
SamplesHG00512, HG00513, 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)dgv7414n152
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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