A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6225814



Internal ID9280337
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 Flag1
Merged StatusS
Merged Variantsesv2664876
Supporting Variants
SamplesNA12748
Known GenesPKD1L3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6225814
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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