A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667988



Internal ID9934093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:67707185..67987103hg38UCSC Ensembl
chr11:67474656..67754574hg19UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg38279919
hg19279919
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv221e199
Supporting Variantsessv5786400, essv5571510
SamplesNA18542, NA07051
Known GenesFAM86C2P
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667988
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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