A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3596951



Internal ID6637221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:89318575..89412084hg38UCSC Ensembl
chr3:89367725..89461234hg19UCSC Ensembl
Cytoband3p11.1
Allele length
AssemblyAllele length
hg3893510
hg1993510
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11068759, essv11068758, essv11068760, essv11068757
SamplesNA19445, HG02882, NA19316, NA19431
Known GenesEPHA3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3596951
Frequency
Sample Size2504
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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