A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1253n209



Internal ID22827328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:232378488..232409745hg38UCSC Ensembl
chr2:233243198..233274455hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3831258
hg1931258
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv5892806, nsv5897683, nsv5897734
Samples
Known GenesALPP, ALPPL2, ECEL1P2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)dgv1253n209
Frequency
Sample Size914
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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