A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5126n152



Internal ID22820829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241487667..241488435hg38UCSC Ensembl
chr2:242427082..242427850hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38769
hg19769
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3198341, nsv3204302
SamplesNA19238, NA19239, NA19240
Known GenesFARP2
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)dgv5126n152
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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