A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1004829



Internal ID7069925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:29576555..29576720hg38UCSC Ensembl
Outerchr21:30948875..30949040hg19UCSC Ensembl
Outerchr21:29870746..29870911hg18UCSC Ensembl
Cytoband21q21.3
Allele length
AssemblyAllele length
hg385498
hg195498
hg185498
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565629
SamplesHuRef
Known GenesGRIK1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1004829
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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