A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3639583



Internal ID6679674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:89481746..89482242hg38UCSC Ensembl
Innerchr16:89481747..89482242hg38UCSC Ensembl
Outerchr16:89481746..89482243hg38UCSC Ensembl
chr16:89548154..89548650hg19UCSC Ensembl
Innerchr16:89548155..89548650hg19UCSC Ensembl
Outerchr16:89548154..89548651hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38497
hg19497
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15569824, essv15569828, essv15569830, essv15569831, essv15569835, essv15569826, essv15569825, essv15569821, essv15569823, essv15569827, essv15569822, essv15569829, essv15569833, essv15569832, essv15569834
SamplesHG04211, HG03754, HG03750, NA21105, NA20904, HG02793, HG03491, NA20901, HG03802, HG03625, HG04200, HG03019, NA20888, NA21133, HG03925
Known GenesANKRD11
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3639583
Frequency
Sample Size2504
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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