A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5129n152



Internal ID22820832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241589448..241592198hg38UCSC Ensembl
chr2:242528863..242531613hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg382751
hg192751
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3184319, nsv3181938
SamplesNA19240, HG00514
Known GenesTHAP4
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv5129n152
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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