A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8848n54



Internal ID22776743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:196222670..196223670hg38UCSC Ensembl
chr3:195949541..195950541hg19UCSC Ensembl
chr3:197433938..197434938hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg381001
hg191001
hg181001
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv593078, nsv593076, nsv593074, nsv593077, nsv593075
Samples
Known GenesSLC51A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8848n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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