A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8317n152



Internal ID22824020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:497801..509450hg38UCSC Ensembl
chr7:537438..549087hg19UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg3811650
hg1911650
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3201436, nsv3207925
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesPDGFA
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)dgv8317n152
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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