A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2824n54



Internal ID18995000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:99647996..99703568hg38UCSC Ensembl
chr12:100041774..100097346hg19UCSC Ensembl
chr12:98565905..98621477hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3855573
hg1955573
hg1855573
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv559959, nsv559957
Samples
Known GenesANKS1B, FAM71C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2824n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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