A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1262343



Internal ID12078780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:246576253..246576253hg38UCSC Ensembl
chr1:246739555..246739555hg19UCSC Ensembl
chr1:244806178..244806178hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38418
hg19418
hg18418
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4143028
SamplesHuRef
Known GenesCNST
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1262343
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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