A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662940



Internal ID9582359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:165517..184688hg38UCSC Ensembl
Outerchr16:165360..184841hg38UCSC Ensembl
Innerchr16:215516..234687hg19UCSC Ensembl
Outerchr16:215359..234840hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3819482
hg1919482
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6429216, essv6376254, essv5447212
SamplesHG00699, HG00690, HG00684
Known GenesHBA1, HBA2, HBM, HBQ1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662940
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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