A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638876



Internal ID6678973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:67030552..67034904hg38UCSC Ensembl
Innerchr16:67030611..67034846hg38UCSC Ensembl
Outerchr16:67030494..67034963hg38UCSC Ensembl
chr16:67064455..67068807hg19UCSC Ensembl
Innerchr16:67064514..67068749hg19UCSC Ensembl
Outerchr16:67064397..67068866hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg384353
hg194353
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15501383, essv15501382
SamplesNA20334, NA20355
Known GenesCBFB
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638876
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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