A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628286



Internal ID6668429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1578430..1579369hg38UCSC Ensembl
Innerchr12:1578430..1579369hg38UCSC Ensembl
Outerchr12:1578180..1579613hg38UCSC Ensembl
chr12:1687596..1688535hg19UCSC Ensembl
Innerchr12:1687596..1688535hg19UCSC Ensembl
Outerchr12:1687346..1688779hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38940
hg19940
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14334509, essv14334510, essv14334508, essv14334512, essv14334511
SamplesHG00100, HG01167, HG01773, HG01626, HG00362
Known GenesFBXL14
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628286
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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