A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4484n152



Internal ID22820187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:11538609..11538662hg38UCSC Ensembl
chr2:11678735..11678788hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3195563, nsv3280222, nsv3525509
SamplesHG00512, NA19239, HG00731, HG00733, HG00514
Known GenesGREB1
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)dgv4484n152
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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