A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7382n54



Internal ID22775277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:240923534..240933305hg38UCSC Ensembl
chr2:241862951..241872722hg19UCSC Ensembl
chr2:241511624..241521395hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg389772
hg199772
hg189772
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv584901, nsv584917, nsv584922
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7382n54
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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