A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2677n152



Internal ID22818380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:77269668..77269724hg38UCSC Ensembl
chr14:77736011..77736067hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3286375, nsv3288363
SamplesNA19240, HG00514
Known GenesNGB
MethodMerging
AnalysisPhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformSee merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv2677n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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