A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1340851



Internal ID12157288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:42894359..42894359hg38UCSC Ensembl
chr21:44314469..44314469hg19UCSC Ensembl
chr21:43187538..43187538hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38106
hg19106
hg18106
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4303525
SamplesHuRef
Known GenesNDUFV3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1340851
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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