A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8538n54



Internal ID22776433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:124886813..124887583hg38UCSC Ensembl
chr3:124605660..124606430hg19UCSC Ensembl
chr3:126088350..126089120hg18UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg38771
hg19771
hg18771
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv591453, nsv591448, nsv591454, nsv591452
Samples
Known GenesITGB5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8538n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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