A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1422n152



Internal ID22817125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:65216657..65216724hg38UCSC Ensembl
chr11:64984128..64984195hg19UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3223036, nsv3210986
SamplesHG00512, NA19240
Known GenesSLC22A20
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)dgv1422n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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