A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668269



Internal ID9934374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:11841914..11843834hg38UCSC Ensembl
chr8:11699423..11701343hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg381921
hg191921
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5955961, essv6202905, essv5565583
SamplesNA19399, NA19457, NA19384
Known GenesCTSB
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668269
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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