A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8534n54



Internal ID22776429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:124886607..124887583hg38UCSC Ensembl
chr3:124605454..124606430hg19UCSC Ensembl
chr3:126088144..126089120hg18UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg38977
hg19977
hg18977
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv591442, nsv591447, nsv591438, nsv591436, nsv591444, nsv591439, nsv591437
Samples
Known GenesITGB5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8534n54
Frequency
Sample Size17421
Observed Gain40
Observed Loss0
Observed Complex0
Frequencyn/a


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