A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3616931



Internal ID6657127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:38598438..38603313hg38UCSC Ensembl
chr8:38455956..38460831hg19UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg384876
hg194876
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13169159, essv13169160
SamplesNA20889, HG04054
Known GenesRNF5P1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3616931
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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