A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3841n223



Internal ID22806809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:39843248..40005500hg38UCSC Ensembl
chr2:40070388..40232640hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg38162253
hg19162253
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6348023, nsv6336909
Samples
Known GenesSLC8A1-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv3841n223
Frequency
Sample Size19652
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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