A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11000991



Internal ID473894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:47192046..47215375hg38UCSC Ensembl
chr3:47233536..47256865hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3823330
hg1923330
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596077
Supporting Variants
SamplesHG00154
Known GenesKIF9-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11000991
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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