A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4315n223



Internal ID22807283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:232326729..232453200hg38UCSC Ensembl
chr2:233191439..233317910hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38126472
hg19126472
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6344516, nsv6335907
Samples
Known GenesALPP, ALPPL2, DIS3L2, ECEL1P2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv4315n223
Frequency
Sample Size19652
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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