A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2512n54



Internal ID22770407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:33867159..34701368hg38UCSC Ensembl
chr12:34020094..34854303hg19UCSC Ensembl
chr12:33911361..34745570hg18UCSC Ensembl
Cytoband12p11.1
Allele length
AssemblyAllele length
hg38834210
hg19834210
hg18834210
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv558297, nsv558300
Samples
Known GenesALG10
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2512n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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