A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638952



Internal ID6679049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:70252544..70262994hg38UCSC Ensembl
chr16:70286447..70296897hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg3810451
hg1910451
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15505894, essv15505895
SamplesHG00255, NA21091
Known GenesAARS
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638952
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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