A curated catalogue of human genomic structural variation




Variant Details

Variant: esv997362



Internal ID6733304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:112692198..112700675hg38UCSC Ensembl
Outerchr1:113234820..113243297hg19UCSC Ensembl
Outerchr1:113036343..113044820hg18UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg388478
hg198478
hg188478
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564850
SamplesHuRef
Known GenesMOV10
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv997362
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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