A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1461344



Internal ID12277780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:37823949..37823949hg38UCSC Ensembl
chr21:39196251..39196251hg19UCSC Ensembl
chr21:38118121..38118121hg18UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg3887
hg1987
hg1887
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4339740
SamplesHuRef
Known GenesKCNJ6
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1461344
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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