A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3567262



Internal ID6691958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:134069472..134069472hg38UCSC Ensembl
chr11:133939367..133939367hg19UCSC Ensembl
chr11:133444577..133444577hg18UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38156
hg19156
hg18156
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1009143
Supporting Variants
SamplesHuRef
Known GenesJAM3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3567262
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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