A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3427n152



Internal ID22819130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:2035424..2035502hg38UCSC Ensembl
chr17:1938718..1938796hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3879
hg1979
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3219467, nsv3215231
SamplesHG00512, HG00513, HG00514
Known GenesDPH1
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)dgv3427n152
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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