A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1263n145



Internal ID22814279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:31434684..31436654hg38UCSC Ensembl
chrX:31452801..31454771hg19UCSC Ensembl
CytobandXp21.2
Allele length
AssemblyAllele length
hg381971
hg191971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3113762, nsv3111193, nsv3110225
Samplessample425, sample313, sample346, sample329, sample420, sample101, sample111, sample302, sample197, sample18, sample234
Known GenesDMD
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)dgv1263n145
Frequency
Sample Size467
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer