A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11274387



Internal ID1112117
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:192567076..192572724hg38UCSC Ensembl
Innerchr3:192567076..192572724hg38UCSC Ensembl
Outerchr3:192566971..192572805hg38UCSC Ensembl
chr3:192284865..192290513hg19UCSC Ensembl
Innerchr3:192284865..192290513hg19UCSC Ensembl
Outerchr3:192284760..192290594hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg385649
hg195649
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599153
Supporting Variants
SamplesHG00739
Known GenesFGF12
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11274387
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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