A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3895n152



Internal ID22819598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:65866003..65866347hg38UCSC Ensembl
chr18:63533239..63533583hg19UCSC Ensembl
Cytoband18q22.1
Allele length
AssemblyAllele length
hg38345
hg19345
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3172979, nsv3188446
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesCDH7
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)dgv3895n152
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer