A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1775n152



Internal ID22817478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:26784932..26785019hg38UCSC Ensembl
chr12:26937865..26937952hg19UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV sva deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3276629, nsv3275567
SamplesHG00733, HG00514
Known GenesITPR2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv1775n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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