A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv408n172



Internal ID22814782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:38717701..38720030hg38UCSC Ensembl
chr2:38944843..38947172hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg382330
hg192330
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4433783, nsv4433782, nsv4433781
SamplesSMI034, MDQ045, MDQ010, SMI041
Known GenesGALM
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)dgv408n172
Frequency
Sample Size15
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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