A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2200n223



Internal ID22805168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:73772701..73781400hg38UCSC Ensembl
chr14:74239404..74248103hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg388700
hg198700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6484088, nsv6477096
Samples
Known GenesELMSAN1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv2200n223
Frequency
Sample Size19652
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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