A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2386n152



Internal ID22818089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:93231314..93231425hg38UCSC Ensembl
chr13:93883567..93883678hg19UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg38112
hg19112
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3221635, nsv3285857, nsv3284796
SamplesHG00512, NA19239, HG00731, NA19240, HG00733
Known GenesGPC6
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)dgv2386n152
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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