A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2826n54



Internal ID18995002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:99884262..100152272hg38UCSC Ensembl
chr12:100278040..100546050hg19UCSC Ensembl
chr12:98802171..99070181hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38268011
hg19268011
hg18268011
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv559970, nsv559966
Samples
Known GenesANKS1B, UHRF1BP1L
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2826n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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