A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1430411



Internal ID12246848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:59491041..59491041hg38UCSC Ensembl
chr1:59956713..59956713hg19UCSC Ensembl
chr1:59729301..59729301hg18UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg3853
hg1953
hg1853
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3651202
SamplesHuRef
Known GenesFGGY
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1430411
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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