A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3639605



Internal ID6679696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:89993894..90000159hg38UCSC Ensembl
Innerchr16:89993912..90000142hg38UCSC Ensembl
Outerchr16:89993877..90000177hg38UCSC Ensembl
chr16:90060302..90066567hg19UCSC Ensembl
Innerchr16:90060320..90066550hg19UCSC Ensembl
Outerchr16:90060285..90066585hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg386266
hg196266
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15569964, essv15569963, essv15569965
SamplesNA19461, NA19042, NA19027
Known GenesAFG3L1P
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3639605
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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