A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675316



Internal ID9941421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:24529668..24535094hg38UCSC Ensembl
Outerchr16:24529631..24535144hg38UCSC Ensembl
Innerchr16:24540989..24546415hg19UCSC Ensembl
Outerchr16:24540952..24546465hg19UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg385514
hg195514
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv488e199
Supporting Variantsessv5459128, essv6152191, essv6439045, essv6459727, essv6107456, essv6542088, essv5970894, essv5692468, essv5694760, essv6053547, essv5539941, essv6360030, essv5453856, essv6506208
SamplesNA19701, NA19397, HG01462, NA18486, NA19355, NA19920, NA19396, NA19172, NA19901, NA18520, NA19445, NA19982, NA19360, NA19102
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675316
Frequency
Sample Size1151
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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