A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618666



Internal ID7005548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:123298885..123309277hg38UCSC Ensembl
chr8:124311125..124321517hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg3810393
hg1910393
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13309027, essv13309026
SamplesHG00637, HG01498
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618666
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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