A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1702n152



Internal ID22817405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6949994..6952303hg38UCSC Ensembl
chr12:7059157..7061466hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg382310
hg192310
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3207570, nsv3201672
SamplesNA19240, HG00733, HG00514
Known GenesPTPN6
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv1702n152
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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