A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2860n54



Internal ID22770755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:109713678..109714969hg38UCSC Ensembl
chr12:110151483..110152774hg19UCSC Ensembl
chr12:108635866..108637157hg18UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg381292
hg191292
hg181292
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv560143, nsv560146, nsv560150, nsv560140, nsv560139, nsv560145, nsv560138
Samples
Known GenesFAM222A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2860n54
Frequency
Sample Size17421
Observed Gain15
Observed Loss0
Observed Complex0
Frequencyn/a


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