A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1542n152



Internal ID22817245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:102601115..102601432hg38UCSC Ensembl
chr11:102471846..102472163hg19UCSC Ensembl
Cytoband11q22.2
Allele length
AssemblyAllele length
hg38318
hg19318
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3522435, nsv3173909
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, HG00733, HG00513, HG00514
Known GenesMMP20
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)dgv1542n152
Frequency
Sample Size9
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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