A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1458469



Internal ID12274905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:202204274..202204274hg38UCSC Ensembl
chr1:202173402..202173402hg19UCSC Ensembl
chr1:200440025..200440025hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3859
hg1959
hg1859
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4362931
SamplesHuRef
Known GenesLGR6
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1458469
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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