A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6865n152



Internal ID22822568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:138135185..138135258hg38UCSC Ensembl
chr4:139056339..139056412hg19UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3281488, nsv3198147
SamplesHG00512, HG00731, HG00732, HG00733, HG00513, HG00514
Known GenesSLC7A11-AS1
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)dgv6865n152
Frequency
Sample Size9
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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