A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv11247n54



Internal ID20144671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:28534799..28535491hg38UCSC Ensembl
chr7:28574417..28575109hg19UCSC Ensembl
chr7:28540942..28541634hg18UCSC Ensembl
Cytoband7p15.1
Allele length
AssemblyAllele length
hg38693
hg19693
hg18693
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv606481, nsv606478, nsv606479, nsv606482
Samples
Known GenesCREB5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv11247n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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