A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1001989



Internal ID7067107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:92997192..93001304hg38UCSC Ensembl
Outerchr11:92730358..92734470hg19UCSC Ensembl
Outerchr11:92370006..92374118hg18UCSC Ensembl
Cytoband11q14.3
Allele length
AssemblyAllele length
hg383569
hg193569
hg183569
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565541
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1001989
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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