A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2728n54



Internal ID22770623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:80542303..80613748hg38UCSC Ensembl
chr12:80936082..81007527hg19UCSC Ensembl
chr12:79460213..79531658hg18UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3871446
hg1971446
hg1871446
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv559463, nsv559462, nsv559461
SamplesHGDP00616
Known GenesPTPRQ
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2728n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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