A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4901n152



Internal ID22820604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:173333856..173334177hg38UCSC Ensembl
chr2:174198584..174198905hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38322
hg19322
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3187077, nsv3522392
SamplesNA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known Genes
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)dgv4901n152
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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