A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3569677



Internal ID7041059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:10414447..10414447hg38UCSC Ensembl
chr18:10414444..10414444hg19UCSC Ensembl
chr18:10404444..10404444hg18UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg3865
hg1965
hg1865
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1008907
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3569677
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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