A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660167



Internal ID9579586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:427853..430781hg38UCSC Ensembl
chr16:477853..480781hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg382929
hg192929
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6415785, essv5660356, essv5442148, essv5646063, essv6163733
SamplesNA19701, NA19130, NA19371, NA19391, NA18853
Known GenesRAB11FIP3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660167
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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