A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664461



Internal ID9583880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:54282404..54291810hg38UCSC Ensembl
Outerchr16:54282033..54292180hg38UCSC Ensembl
Innerchr16:54316316..54325722hg19UCSC Ensembl
Outerchr16:54315945..54326092hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3810148
hg1910148
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5487383, essv5689814, essv6313210, essv6082560, essv5960756, essv6407164, essv5451038, essv5466599, essv5693432, essv5679475, essv5640782, essv6339072, essv6008701, essv5630505, essv5846970, essv5408771, essv6005964, essv5578158, essv5590170, essv6367835, essv5727940, essv5941997
SamplesNA19443, NA19446, NA19448, NA19457, NA19471, NA19456, NA19451, NA19437, NA19347, NA19338, NA19436, NA19440, NA19434, NA19473, NA19435, NA19334, NA19438, NA19474, NA19430, NA19312, NA19346, NA19431
Known GenesIRX3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664461
Frequency
Sample Size1151
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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