A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8449n152



Internal ID22824152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:29540985..29541042hg38UCSC Ensembl
chr7:29580601..29580658hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3529904, nsv3287498
SamplesHG00732, HG00733, HG00513, 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)dgv8449n152
Frequency
Sample Size9
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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