A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2850124



Internal ID10523104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:115686865..115690222hg38UCSC Ensembl
Outerchr1:116229486..116232843hg19UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg383358
hg193358
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7119691
SamplesHuRef
Known GenesVANGL1
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)esv2850124
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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