A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597864



Internal ID6638131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:135041307..135074872hg38UCSC Ensembl
chr3:134760149..134793714hg19UCSC Ensembl
Cytoband3q22.2
Allele length
AssemblyAllele length
hg3833566
hg1933566
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11156441
SamplesNA18520
Known GenesEPHB1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597864
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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