A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3581458



Internal ID6706154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:65540714..65540714hg38UCSC Ensembl
chr11:65308185..65308185hg19UCSC Ensembl
chr11:65064761..65064761hg18UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg3872
hg1972
hg1872
Variant TypeCNV insertion
Copy Number
Allele StateHomozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv987755
Supporting Variants
SamplesHuRef
Known GenesLTBP3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3581458
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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