A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674381



Internal ID9593800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:88851025..88851768hg38UCSC Ensembl
chr16:88917433..88918176hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38744
hg19744
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5860164, essv5922920
SamplesHG00536, NA19064
Known GenesGALNS
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674381
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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