A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7181n152



Internal ID22822884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:7300550..7301096hg38UCSC Ensembl
chr5:7300663..7301209hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg38547
hg19547
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3192586, nsv3197773
SamplesNA19240
Known GenesLOC442132
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)dgv7181n152
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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