A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7239n54



Internal ID22775134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:194348942..194501360hg38UCSC Ensembl
chr2:195213666..195366084hg19UCSC Ensembl
chr2:194921911..195074329hg18UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg38152419
hg19152419
hg18152419
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv584097, nsv584095, nsv584096
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7239n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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