A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4072n223



Internal ID22807040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:102073096..102717507hg38UCSC Ensembl
chr2:102689556..103333966hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38644412
hg19644411
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6352981, nsv6349211
Samples
Known GenesIL18R1, IL18RAP, IL1R1, IL1RL1, IL1RL2, MFSD9, MIR4772, SLC9A2, SLC9A4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv4072n223
Frequency
Sample Size19652
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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