A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2830n54



Internal ID18995006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:99896088..99897556hg38UCSC Ensembl
chr12:100289866..100291334hg19UCSC Ensembl
chr12:98813997..98815465hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg381469
hg191469
hg181469
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv559988, nsv559987
Samples
Known GenesANKS1B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2830n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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