A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658834



Internal ID9578253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:7012007..7032757hg38UCSC Ensembl
chr16:7062008..7082758hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3820751
hg1920751
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5920539, essv6250918, essv6283893
SamplesNA18593, HG00427, NA18574
Known GenesRBFOX1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658834
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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