A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6877n152



Internal ID22822580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:147537804..147537856hg38UCSC Ensembl
chr4:148458956..148459008hg19UCSC Ensembl
Cytoband4q31.22
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3524944, nsv3197914
SamplesNA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513
Known GenesEDNRA
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)dgv6877n152
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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