A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15545798



Internal ID5547614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:84172318..84253359hg38UCSC Ensembl
chr16:84205924..84286965hg19UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg3881042
hg1981042
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639413
Supporting Variants
SamplesHG03009
Known GenesADAD2, DNAAF1, KCNG4, TAF1C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15545798
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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