A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1219589



Internal ID12382712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:114205268..114205268hg38UCSC Ensembl
chr1:114747890..114747890hg19UCSC Ensembl
chr1:114549413..114549413hg18UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg3881
hg1981
hg1881
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4134041
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1219589
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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