A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2207n152



Internal ID22817910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:30270029..30270262hg38UCSC Ensembl
chr13:30844166..30844399hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg38234
hg19234
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3527758, nsv3285923, nsv3285255
SamplesHG00731, HG00732, HG00733, HG00514
Known GenesKATNAL1
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)dgv2207n152
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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