A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1019n152



Internal ID22816722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:97259546..97286747hg38UCSC Ensembl
chr10:99019303..99046504hg19UCSC Ensembl
Cytoband10q24.1
Allele length
AssemblyAllele length
hg3827202
hg1927202
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3215221, nsv3224713
SamplesHG00512, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513
Known GenesARHGAP19, ARHGAP19-SLIT1
MethodMerging
Optical mapping
AnalysisBioNano Genomics proprietary analysis
PhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformBioNano Genomics
See merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv1019n152
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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