A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618474



Internal ID7005356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:113605928..113609426hg38UCSC Ensembl
chr8:114618157..114621655hg19UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg383499
hg193499
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13288900, essv13288898, essv13288897, essv13288899
SamplesNA19794, HG03753, HG03848, HG02314
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618474
Frequency
Sample Size2504
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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