A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11074842



Internal ID392993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:98422519..98430280hg38UCSC Ensembl
chr3:98141363..98149124hg19UCSC Ensembl
Cytoband3q11.2
Allele length
AssemblyAllele length
hg387762
hg197762
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597117
Supporting Variants
SamplesHG00115
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11074842
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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