A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5083n152



Internal ID22820786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:238868504..238872409hg38UCSC Ensembl
chr2:239777145..239781050hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg383906
hg193906
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3174318, nsv3182604
SamplesNA19240, HG00733
Known GenesTWIST2
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv5083n152
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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