A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664835



Internal ID9584254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:89982475..89982547hg38UCSC Ensembl
Outerchr16:89982438..89982597hg38UCSC Ensembl
Innerchr16:90048883..90048955hg19UCSC Ensembl
Outerchr16:90048846..90049005hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38160
hg19160
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5460576, essv5645956, essv5722569, essv6571612, essv5956045, essv5432017, essv6594503, essv5415279, essv6061722, essv6259864
SamplesNA18520, HG00335, NA18547, HG00237, NA18620, HG00513, NA18582, NA18611, HG00690, NA18532
Known GenesAFG3L1P
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664835
Frequency
Sample Size1151
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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