A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4429n152



Internal ID22820132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:1864701..1868250hg38UCSC Ensembl
chr2:1868473..1872022hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg383550
hg193550
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3198789, nsv3197551
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesMYT1L
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)dgv4429n152
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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