A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668460



Internal ID9934565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:117516641..117518525hg38UCSC Ensembl
chr6:117837804..117839688hg19UCSC Ensembl
Cytoband6q22.1
Allele length
AssemblyAllele length
hg381885
hg191885
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5717638
SamplesNA12155
Known GenesDCBLD1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668460
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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