A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv11295n54



Internal ID20144719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:43585908..43595683hg38UCSC Ensembl
chr7:43625507..43635282hg19UCSC Ensembl
chr7:43592032..43601807hg18UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg389776
hg199776
hg189776
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv606738, nsv606727
Samples
Known GenesSTK17A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv11295n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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