A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3974n223



Internal ID22806942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:88739501..88795200hg38UCSC Ensembl
chr2:89039018..89094717hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg3855700
hg1955700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6336734, nsv6355064
Samples
Known GenesANKRD36BP2, RPIA
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv3974n223
Frequency
Sample Size19652
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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