A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3580717



Internal ID6705413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:17903116..17903116hg38UCSC Ensembl
chr21:19275433..19275433hg19UCSC Ensembl
chr21:18197304..18197304hg18UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg3899
hg1999
hg1899
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv999379
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3580717
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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