A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4625n152



Internal ID22820328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:72141601..72152000hg38UCSC Ensembl
chr2:72368730..72379129hg19UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg3810400
hg1910400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3202329, nsv3199676
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesCYP26B1
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)dgv4625n152
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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