A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658521



Internal ID9577940
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 Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5445203, essv6339385, essv5570059, essv5583875, essv5609315
SamplesHG00242, HG00187, HG00641, HG01167, NA07056
Known GenesFBXL14
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658521
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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