A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2805n54



Internal ID20136229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:96193146..96195063hg38UCSC Ensembl
chr12:96586924..96588841hg19UCSC Ensembl
chr12:95111055..95112972hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg381918
hg191918
hg181918
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv559840, nsv559839, nsv559838
Samples
Known GenesELK3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2805n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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