A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1842n152



Internal ID22817545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:50872645..50872707hg38UCSC Ensembl
chr12:51266428..51266490hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3229455, nsv3224585
SamplesHG00512, HG00513, HG00514
Known GenesTMPRSS12
MethodMerging
Sequencing
AnalysisMultiple analysis algorthms
PhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformIllumina HiSeq
See merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv1842n152
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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