A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674376



Internal ID9940481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:48399826..48406499hg38UCSC Ensembl
chr16:48433737..48440410hg19UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg386674
hg196674
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5853483
SamplesNA19084
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674376
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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