A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1413n152



Internal ID22817116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:62562533..62563047hg38UCSC Ensembl
chr11:62330005..62330519hg19UCSC Ensembl
Cytoband11q12.3
Allele length
AssemblyAllele length
hg38515
hg19515
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3211706, nsv3530025
SamplesHG00512, NA19238, NA19240, HG00733, HG00514
Known GenesEEF1G
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)dgv1413n152
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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