A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4090n223



Internal ID22807058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:120165725..120166690hg38UCSC Ensembl
chr2:120923301..120924266hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg38966
hg19966
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6544911, nsv6546153
Samples
Known GenesEPB41L5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv4090n223
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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