A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2822n54



Internal ID20136246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:99401351..99408847hg38UCSC Ensembl
chr12:99795129..99802625hg19UCSC Ensembl
chr12:98319260..98326756hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg387497
hg197497
hg187497
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv559950, nsv559951, nsv559944, nsv559939, nsv559941, nsv559940, nsv559946, nsv559945, nsv559948, nsv559942
Samples
Known GenesANKS1B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2822n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss95
Observed Complex0
Frequencyn/a


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