A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670048



Internal ID9589467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:196611..198740hg38UCSC Ensembl
Outerchr16:196574..198790hg38UCSC Ensembl
Innerchr16:246610..248739hg19UCSC Ensembl
Outerchr16:246573..248789hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg382217
hg192217
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6540462
SamplesNA19385
Known GenesLUC7L
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670048
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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