A curated catalogue of human genomic structural variation




Variant Details

Variant: esv995454



Internal ID7079877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:203554765..203556434hg38UCSC Ensembl
Outerchr1:203523893..203525562hg19UCSC Ensembl
Outerchr1:201790516..201792185hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg383082
hg193082
hg183082
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564251
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv995454
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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