A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7234n54



Internal ID18999410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:188976326..189014043hg38UCSC Ensembl
chr2:189841052..189878769hg19UCSC Ensembl
chr2:189549297..189587014hg18UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg3837718
hg1937718
hg1837718
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv584061, nsv584060, nsv584059
Samples
Known GenesCOL3A1, MIR1245A, MIR1245B, MIR3606
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7234n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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