A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2069n152



Internal ID22817772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:129087975..129089534hg38UCSC Ensembl
chr12:129572520..129574079hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg381560
hg191560
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3224812, nsv3219959
SamplesHG00512, HG00732, HG00514
Known GenesTMEM132D
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)dgv2069n152
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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