A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7085n54



Internal ID20140509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:132276581..132594130hg38UCSC Ensembl
chr2:133034154..133351703hg19UCSC Ensembl
chr2:132750624..133068173hg18UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg38317550
hg19317550
hg18317550
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv583150, nsv583149
Samples
Known GenesGPR39
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7085n54
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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