A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3639306



Internal ID6679401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:80981176..81044463hg38UCSC Ensembl
chr16:81014781..81078068hg19UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg3863288
hg1963288
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15535868, essv15535867, essv15535866
SamplesNA18977, HG01670, NA18953
Known GenesATMIN, CENPN, CMC2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3639306
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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