A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2836n54



Internal ID22770731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:101711350..101716557hg38UCSC Ensembl
chr12:102105128..102110335hg19UCSC Ensembl
chr12:100629259..100634466hg18UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg385208
hg195208
hg185208
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv560021, nsv560023, nsv560016, nsv560020
Samples
Known GenesCHPT1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2836n54
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