A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597916



Internal ID6638183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:138478438..138638584hg38UCSC Ensembl
chr3:138197280..138357426hg19UCSC Ensembl
Cytoband3q22.3
Allele length
AssemblyAllele length
hg38160147
hg19160147
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11160762
SamplesHG01766
Known GenesCEP70, FAIM
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597916
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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