A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2794n54



Internal ID22770689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:94148083..94149635hg38UCSC Ensembl
chr12:94541859..94543411hg19UCSC Ensembl
chr12:93065990..93067542hg18UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg381553
hg191553
hg181553
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv559788, nsv559793, nsv559789, nsv559787, nsv559792
Samples
Known GenesPLXNC1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2794n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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