A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3639561



Internal ID6679652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:88837996..88882065hg38UCSC Ensembl
chr16:88904404..88948473hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg3844070
hg1944070
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15567766
SamplesHG02476
Known GenesCBFA2T3, GALNS, PABPN1L, TRAPPC2L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3639561
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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