A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664876



Internal ID9930981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:71965752..71969129hg38UCSC Ensembl
chr16:71999651..72003028hg19UCSC Ensembl
Cytoband16q22.2
Allele length
AssemblyAllele length
hg383378
hg193378
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5726371, essv6225814, essv6364617
SamplesNA20816, HG00160, NA12748
Known GenesPKD1L3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664876
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer