A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7440n54



Internal ID18999616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:2692558..2694089hg38UCSC Ensembl
chr20:2673204..2674735hg19UCSC Ensembl
chr20:2621204..2622735hg18UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg381532
hg191532
hg181532
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv585273, nsv585270
Samples
Known GenesEBF4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7440n54
Frequency
Sample Size17421
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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