A curated catalogue of human genomic structural variation




Variant Details

Variant: esv994532



Internal ID7063093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:115686522..115694466hg38UCSC Ensembl
Outerchr1:116229143..116237087hg19UCSC Ensembl
Outerchr1:116030666..116038610hg18UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg387945
hg197945
hg187945
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563468
SamplesHuRef
Known GenesVANGL1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv994532
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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