A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5121n223



Internal ID22808089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:185799682..185801634hg38UCSC Ensembl
chr3:185517470..185519422hg19UCSC Ensembl
Cytoband3q27.2
Allele length
AssemblyAllele length
hg381953
hg191953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6363028, nsv6367276
Samples
Known GenesIGF2BP2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv5121n223
Frequency
Sample Size19652
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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