A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2983n54



Internal ID22770878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:130916107..130949355hg38UCSC Ensembl
chr12:131400652..131433900hg19UCSC Ensembl
chr12:129966605..129999853hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3833249
hg1933249
hg1833249
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv560768, nsv560770
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2983n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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