A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2829n54



Internal ID18995005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:99895704..99898943hg38UCSC Ensembl
chr12:100289482..100292721hg19UCSC Ensembl
chr12:98813613..98816852hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg383240
hg193240
hg183240
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv559980, nsv559981
Samples
Known GenesANKS1B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2829n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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