A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1654437



Internal ID12470869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241052725..241052725hg38UCSC Ensembl
chr2:241992142..241992142hg19UCSC Ensembl
chr2:241640815..241640815hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3779355
SamplesHuRef
Known GenesSNED1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1654437
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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