A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4265n223



Internal ID22807233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:205249101..205257100hg38UCSC Ensembl
chr2:206113825..206121824hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg388000
hg198000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6347601, nsv6353912
Samples
Known GenesPARD3B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv4265n223
Frequency
Sample Size19652
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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