A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1561266



Internal ID12377701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:37685535..37685535hg38UCSC Ensembl
chr21:39057838..39057838hg19UCSC Ensembl
chr21:37979708..37979708hg18UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg38321
hg19321
hg18321
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3970034
SamplesHuRef
Known GenesKCNJ6
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1561266
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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