A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7240n54



Internal ID22775135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:194380385..194501360hg38UCSC Ensembl
chr2:195245109..195366084hg19UCSC Ensembl
chr2:194953354..195074329hg18UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg38120976
hg19120976
hg18120976
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv584101, nsv584098, nsv584102, nsv584100
SamplesHGDP01197
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7240n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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