A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15503745



Internal ID5505561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:69677077..69756070hg38UCSC Ensembl
chr16:69710980..69789973hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg3878994
hg1978994
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638928
Supporting Variants
SamplesHG02079
Known GenesNFAT5, NOB1, NQO1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15503745
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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