A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3811n152



Internal ID22819514
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:33096293..33096349hg38UCSC Ensembl
chr18:30676257..30676313hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3212976, nsv3528199
SamplesNA19238, NA19240
Known GenesCCDC178
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)dgv3811n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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