A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2198n54



Internal ID20135622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:130070036..130071002hg38UCSC Ensembl
chr11:129939931..129940897hg19UCSC Ensembl
chr11:129445141..129446107hg18UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg38967
hg19967
hg18967
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv556567, nsv556569
Samples
Known GenesAPLP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2198n54
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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