A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3596949



Internal ID6637219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:89254791..89310265hg38UCSC Ensembl
chr3:89303941..89359415hg19UCSC Ensembl
Cytoband3p11.1
Allele length
AssemblyAllele length
hg3855475
hg1955475
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11068134
SamplesHG02882
Known GenesEPHA3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3596949
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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