A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1384773



Internal ID12547895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:33356294..33356294hg38UCSC Ensembl
chr1:33821895..33821895hg19UCSC Ensembl
chr1:33594482..33594482hg18UCSC Ensembl
Cytoband1p35.1
Allele length
AssemblyAllele length
hg3858
hg1958
hg1858
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3757381
SamplesHuRef
Known GenesPHC2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1384773
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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