A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4129n223



Internal ID22807097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:134333301..134359300hg38UCSC Ensembl
chr2:135090872..135116871hg19UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg3826000
hg1926000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6349239, nsv6352317
Samples
Known GenesMGAT5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv4129n223
Frequency
Sample Size19652
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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