A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3621464



Internal ID7008333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:110412887..110423226hg38UCSC Ensembl
chr9:113175167..113185506hg19UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg3810340
hg1910340
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13598990, essv13598986, essv13598987, essv13598989, essv13598988
SamplesHG00654, HG02144, HG01363, NA19078, HG03698
Known GenesSVEP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3621464
Frequency
Sample Size2504
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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