A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv10293n152



Internal ID22825996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:133635182..133635452hg38UCSC Ensembl
chrX:132769210..132769480hg19UCSC Ensembl
CytobandXq26.2
Allele length
AssemblyAllele length
hg38271
hg19271
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3209967, nsv3526031
SamplesHG00513, HG00514
Known GenesGPC3
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)dgv10293n152
Frequency
Sample Size9
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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