A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv443n172



Internal ID22814817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:238591693..238593091hg38UCSC Ensembl
chr2:239500334..239501732hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381399
hg191399
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv4433711, nsv4433712, nsv4433709, nsv4433710
SamplesSMI034, MDQ045, MDQ010, BTQ016, SMI041, NB11, NB07, SMI018, MDQ025, NB09
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)dgv443n172
Frequency
Sample Size15
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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