A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7020n54



Internal ID22774915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:117215578..117644284hg38UCSC Ensembl
chr2:117973154..118401860hg19UCSC Ensembl
chr2:117689624..118118330hg18UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg38428707
hg19428707
hg18428707
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv582766, nsv582765
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7020n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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