A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4948n223



Internal ID22807916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:96803301..96824800hg38UCSC Ensembl
chr3:96522145..96543644hg19UCSC Ensembl
Cytoband3q11.2
Allele length
AssemblyAllele length
hg3821500
hg1921500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6361726, nsv6371486
Samples
Known GenesEPHA6
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv4948n223
Frequency
Sample Size19652
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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