A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2870457



Internal ID10543437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:756834..766834hg38UCSC Ensembl
Innerchr12:866000..876000hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3810001
hg1910001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7140024
SamplesHuRef
Known GenesWNK1
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)esv2870457
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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