A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4792n152



Internal ID22820495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:126553494..126591856hg38UCSC Ensembl
chr2:127311071..127349433hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3838363
hg1938363
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3208014, nsv3192064
SamplesHG00731
Known Genes
MethodOptical mapping
Sequencing
AnalysisBioNano Genomics proprietary analysis
Multiple analysis algorthms
PlatformBioNano Genomics
Illumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv4792n152
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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