A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3616559



Internal ID6656755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:20127120..20166631hg38UCSC Ensembl
chr8:19984631..20024142hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg3839512
hg1939512
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13132408, essv13132409, essv13132407
SamplesHG02360, HG02081, NA18997
Known GenesSLC18A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3616559
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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