A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1617n152



Internal ID22817320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:125657209..125657269hg38UCSC Ensembl
chr11:125527104..125527164hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3217569, nsv3211857
SamplesHG00731, HG00733
Known GenesCHEK1
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)dgv1617n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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