A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4739n152



Internal ID22820442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:112776416..112776599hg38UCSC Ensembl
chr2:113533993..113534176hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38184
hg19184
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3282825, nsv3281329
SamplesNA19240, HG00733
Known GenesIL1A
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv4739n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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