A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663303



Internal ID9929408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:9292868..9318100hg38UCSC Ensembl
chr16:9386725..9411957hg19UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg3825233
hg1925233
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5892098, essv6257453, essv5865528, essv6163464, essv5559030, essv5623925, essv5588744
SamplesHG00699, HG00122, HG01198, HG01133, HG00531, HG00353, HG00267
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663303
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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