A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8758n54



Internal ID22776653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:183824938..183825817hg38UCSC Ensembl
chr3:183542726..183543605hg19UCSC Ensembl
chr3:185025420..185026299hg18UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg38880
hg19880
hg18880
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv592661, nsv592665, nsv592662
Samples
Known GenesMAP6D1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8758n54
Frequency
Sample Size17421
Observed Gain9
Observed Loss5
Observed Complex0
Frequencyn/a


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