A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597830



Internal ID6984968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:132728764..132733663hg38UCSC Ensembl
chr3:132447608..132452507hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg384900
hg194900
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11154495
SamplesHG04001
Known GenesNPHP3-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597830
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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