A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676080



Internal ID9942185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:14058712..14060001hg38UCSC Ensembl
chr16:14152569..14153858hg19UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg381290
hg191290
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5571584, essv5963701, essv5854774, essv6310377, essv5681863, essv6326732, essv6189434, essv5509340, essv6431002, essv5449784, essv6356498, essv6336684, essv5488203, essv6484734
SamplesNA19777, HG01351, NA19678, NA19723, NA19731, HG01353, NA19776, NA19682, NA19675, NA19749, NA19783, NA19759, HG01378, NA19758
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676080
Frequency
Sample Size1151
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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