A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1621n152



Internal ID22817324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:126921580..126921755hg38UCSC Ensembl
chr11:126791476..126791651hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg38176
hg19176
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3228065, nsv3224262
SamplesHG00512, HG00514
Known GenesKIRREL3
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)dgv1621n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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