A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1905n152



Internal ID22817608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:74232391..74271999hg38UCSC Ensembl
chr12:74626171..74665779hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg3839609
hg1939609
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3221867, nsv3227833
SamplesNA19239, HG00514
Known GenesLOC100507377
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)dgv1905n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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