A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv108n152



Internal ID22815811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:11964251..11970000hg38UCSC Ensembl
chr1:12024308..12030057hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg385750
hg195750
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3190802, nsv3201272
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesPLOD1
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)dgv108n152
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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