A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2828n54



Internal ID20136252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:99895704..99897919hg38UCSC Ensembl
chr12:100289482..100291697hg19UCSC Ensembl
chr12:98813613..98815828hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg382216
hg192216
hg182216
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv559983, nsv559976, nsv559985, nsv559979, nsv559978, nsv559984, nsv559977, nsv559982, nsv559986, nsv559975
Samples
Known GenesANKS1B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2828n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss141
Observed Complex0
Frequencyn/a


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