A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11154495



Internal ID4501394
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597830
Supporting Variants
SamplesHG04001
Known GenesNPHP3-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11154495
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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