A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8818n54



Internal ID22776713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:193418687..193424987hg38UCSC Ensembl
chr3:193136476..193142776hg19UCSC Ensembl
chr3:194619170..194625470hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg386301
hg196301
hg186301
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv592943, nsv592952, nsv592945, nsv592948, nsv592947, nsv592950, nsv592944, nsv592955, nsv592953, nsv592949, nsv592951
Samples
Known GenesATP13A4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8818n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss55
Observed Complex0
Frequencyn/a


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