A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3616014



Internal ID7002902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:4937983..5305497hg38UCSC Ensembl
chr8:4795505..5163019hg19UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg38367515
hg19367515
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13074950, essv13074952, essv13074953, essv13074951
SamplesNA19007, NA19012, NA19080, NA19011
Known GenesCSMD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3616014
Frequency
Sample Size2504
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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