A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15546864



Internal ID5548680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:84472177..84518552hg38UCSC Ensembl
chr16:84505783..84552158hg19UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg3846376
hg1946376
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639429
Supporting Variants
SamplesHG02008
Known GenesTLDC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15546864
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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