A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4706n152



Internal ID22820409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:100037420..100037564hg38UCSC Ensembl
chr2:100653882..100654026hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38145
hg19145
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3279949, nsv3280112
SamplesHG00733, HG00514
Known GenesAFF3
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv4706n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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