A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5004n152



Internal ID22820707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:221424954..221425159hg38UCSC Ensembl
chr2:222289674..222289879hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg38206
hg19206
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3525554, nsv3206187
SamplesNA19239, NA19240
Known GenesEPHA4
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)dgv5004n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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