A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4890n152



Internal ID22820593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:169029712..169030039hg38UCSC Ensembl
chr2:169886222..169886549hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38328
hg19328
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3522988, nsv3174107
SamplesHG00512, HG00513, HG00514
Known GenesABCB11
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)dgv4890n152
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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