A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670890



Internal ID9936995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:24905269..24906532hg38UCSC Ensembl
Outerchr16:24905232..24906582hg38UCSC Ensembl
Innerchr16:24916590..24917853hg19UCSC Ensembl
Outerchr16:24916553..24917903hg19UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg381351
hg191351
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5876373
SamplesHG01187
Known GenesSLC5A11
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670890
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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