A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3564932



Internal ID6689628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:75723792..75727119hg38UCSC Ensembl
Outerchr11:75434837..75438164hg19UCSC Ensembl
Outerchr11:75112485..75115812hg18UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg3812781
hg1912781
hg1812781
Variant TypeCNV insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1010460
Supporting Variants
SamplesHuRef
Known GenesMOGAT2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3564932
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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