A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8812n54



Internal ID22776707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:193059791..193067683hg38UCSC Ensembl
chr3:192777580..192785472hg19UCSC Ensembl
chr3:194260274..194268166hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg387893
hg197893
hg187893
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv592920, nsv592914
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8812n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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