A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6221n152



Internal ID22821924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:160071924..160072013hg38UCSC Ensembl
chr3:159789711..159789800hg19UCSC Ensembl
Cytoband3q25.33
Allele length
AssemblyAllele length
hg3890
hg1990
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3195727, nsv3194282, nsv3281467
SamplesHG00731, HG00732, HG00733, HG00514
Known GenesIL12A-AS1
MethodMerging
Sequencing
AnalysisMultiple analysis algorthms
PhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformIllumina HiSeq
See merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv6221n152
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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