A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1411689



Internal ID12574811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:56388154..56388154hg38UCSC Ensembl
chr20:54963210..54963210hg19UCSC Ensembl
chr20:54396617..54396617hg18UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3861
hg1961
hg1861
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4048480
SamplesHuRef
Known GenesAURKA
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1411689
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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