A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7322n54



Internal ID22775217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:227712947..227747137hg38UCSC Ensembl
chr2:228577663..228611853hg19UCSC Ensembl
chr2:228285907..228320097hg18UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg3834191
hg1934191
hg1834191
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv584613, nsv584612, nsv584611
Samples
Known GenesSLC19A3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7322n54
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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