A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7359n54



Internal ID20140783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:240410114..240471872hg38UCSC Ensembl
chr2:241349531..241411289hg19UCSC Ensembl
chr2:240998204..241059962hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3861759
hg1961759
hg1861759
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv584808, nsv584807
SamplesHGDP00974
Known GenesGPC1, MIR149, PP14571
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7359n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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