A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8533n54



Internal ID22776428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:124886607..124887358hg38UCSC Ensembl
chr3:124605454..124606205hg19UCSC Ensembl
chr3:126088144..126088895hg18UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg38752
hg19752
hg18752
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv591433, nsv591434, nsv591435
Samples
Known GenesITGB5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8533n54
Frequency
Sample Size17421
Observed Gain6
Observed Loss3
Observed Complex0
Frequencyn/a


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