A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv10074n152



Internal ID22825777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:30868509..30868586hg38UCSC Ensembl
chrX:30886626..30886703hg19UCSC Ensembl
CytobandXp21.2
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3280467, nsv3281977, nsv3200859
SamplesHG00732, HG00733, HG00514
Known GenesTAB3
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)dgv10074n152
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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