A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6139n152



Internal ID22821842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:126551251..126555600hg38UCSC Ensembl
chr3:126270094..126274443hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg384350
hg194350
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3206934, nsv3201816
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesC3orf22
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)dgv6139n152
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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