A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5768534



Internal ID8745938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:25218721..25219878hg38UCSC Ensembl
chr16:25230042..25231199hg19UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg381158
hg191158
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2668763
Supporting Variants
SamplesHG00345
Known GenesAQP8
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5768534
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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