A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2186n152



Internal ID22817889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:25812491..25816470hg38UCSC Ensembl
chr13:26386629..26390608hg19UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg383980
hg193980
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3194987, nsv3207654, nsv3203563
SamplesNA19240, HG00733, HG00514
Known GenesATP8A2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv2186n152
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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