A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv246e199



Internal ID20123548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:117456811..117458678hg38UCSC Ensembl
chr11:117327527..117329394hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg381868
hg191868
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2669545, esv2677023
SamplesHG01441
Known GenesDSCAML1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv246e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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