A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674216



Internal ID9593635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:134281716..134344731hg38UCSC Ensembl
chr11:134151610..134214625hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg3863016
hg1963016
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6445222, essv6011784, essv6328898
SamplesHG00589, NA19713, NA18873
Known GenesGLB1L2, GLB1L3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674216
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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