A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2027n152



Internal ID22817730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122393911..122394512hg38UCSC Ensembl
chr12:122878458..122879059hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38602
hg19602
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3223126, nsv3211891
SamplesHG00731, HG00732, HG00733
Known GenesCLIP1
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)dgv2027n152
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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