A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6527n152



Internal ID22822230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:28312652..28312706hg38UCSC Ensembl
chr4:28314274..28314328hg19UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3198603, nsv3194678
SamplesHG00512, HG00514
Known Genes
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)dgv6527n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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