A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8382n54



Internal ID22776277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:75370585..75587819hg38UCSC Ensembl
chr3:75419736..75636970hg19UCSC Ensembl
chr3:75502426..75719660hg18UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg38217235
hg19217235
hg18217235
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv590687, nsv590688, nsv590655, nsv590674, nsv590675, nsv590661, nsv590666, nsv590660, nsv590689, nsv590650, nsv590690, nsv590686, nsv590691, nsv590698, nsv590677, nsv590667, nsv590665, nsv590678, nsv590697, nsv590676, nsv590685, nsv590668
Samples
Known GenesFAM86DP
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8382n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss32
Observed Complex0
Frequencyn/a


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