A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1000203



Internal ID7065338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:32619184..32621286hg38UCSC Ensembl
Outerchr20:31206986..31209088hg19UCSC Ensembl
Outerchr20:30670647..30672749hg18UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg383004
hg193004
hg183004
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565016
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1000203
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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