A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv133n54



Internal ID22768028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:12851347..12859579hg38UCSC Ensembl
chr1:12911200..12919434hg19UCSC Ensembl
chr1:12833787..12842021hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg388233
hg198235
hg188235
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv545523, nsv545524, nsv545521
Samples
Known GenesPRAMEF2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv133n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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