A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv9111n152



Internal ID22824814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:27251264..27251339hg38UCSC Ensembl
chr8:27108781..27108856hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3224458, nsv3226612
SamplesNA19239, HG00733
Known GenesSTMN4
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)dgv9111n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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