A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6209n152



Internal ID22821912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:154378944..154379265hg38UCSC Ensembl
chr3:154096733..154097054hg19UCSC Ensembl
Cytoband3q25.2
Allele length
AssemblyAllele length
hg38322
hg19322
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3519789, nsv3182703
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesGPR149
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)dgv6209n152
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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