A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8819n54



Internal ID22776714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:193418687..193426029hg38UCSC Ensembl
chr3:193136476..193143818hg19UCSC Ensembl
chr3:194619170..194626512hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg387343
hg197343
hg187343
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv592946, nsv592954
Samples
Known GenesATP13A4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8819n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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