A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11273230



Internal ID1275046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:192218451..192270327hg38UCSC Ensembl
chr3:191936240..191988116hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg3851877
hg1951877
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599140
Supporting Variants
SamplesHG00704
Known GenesFGF12
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11273230
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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