A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5570059



Internal ID8547462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:1578524..1579337hg38UCSC Ensembl
Outerchr12:1578367..1579534hg38UCSC Ensembl
Innerchr12:1687690..1688503hg19UCSC Ensembl
Outerchr12:1687533..1688700hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg381168
hg191168
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2658521
Supporting Variants
SamplesHG00242
Known GenesFBXL14
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5570059
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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