A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2859n54



Internal ID22770754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:109713678..109714679hg38UCSC Ensembl
chr12:110151483..110152484hg19UCSC Ensembl
chr12:108635866..108636867hg18UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg381002
hg191002
hg181002
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv560137, nsv560144, nsv560135
Samples
Known GenesFAM222A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2859n54
Frequency
Sample Size17421
Observed Gain5
Observed Loss5
Observed Complex0
Frequencyn/a


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