A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv375n152



Internal ID22816078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:111502073..111502164hg38UCSC Ensembl
chr1:112044695..112044786hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg3892
hg1992
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3196030, nsv3208463
SamplesHG00512, HG00513, HG00514
Known GenesADORA3
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)dgv375n152
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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