A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4283n152



Internal ID22819986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:44220975..44221209hg38UCSC Ensembl
chr19:44725128..44725362hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg38235
hg19235
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3216482, nsv3229491
SamplesNA19239, NA19240, HG00513, HG00514
Known GenesZNF227
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)dgv4283n152
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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